A case on Hemophilia -A

7/29/2019 A case on Hemophilia -A

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B. PATHOPHYSIOLOGY

1.) Anatomy and Physiology of the Hematologic System

The blood and blood-forming tissues that make up the hematologic

system play a vital role in body metabolism: transporting oxygen and

nutrients to body cells, removing carbon dioxide from cells, and initiating

blood coagulation when vessels are injured. Blood components originate in

the bone marrow, circulate through blood vessels, and ultimately are

destroyed by the spleen.

Blood Formation and Components

The hematologic system manufactures new blood cells through a

process called hematopoiesis. Multipotential stem cells in bone marrow give

rise to five distinct cell types, called unipotential stem cells. Unipotential cells

differentiate into one of the following types of blood cells: Erythrocyte,

Granulocyte, Agranulocyte, and Platelet.

The formation of blood cells begins in the fetal yolk sac as early as

week 2 of intrauterine life. By month 2 of intrauterine life, the liver and

spleen begin forming blood components. At approximately month 4, the

bone marrow becomes and remains the active center for the origination of

blood cells. As in extrauterine life, the spleen serves as the organ for the

destruction of blood cells once their normal lifespan has passed.

The total blood volume in the body is roughly proportional to the body

weight: 85ml/kg at birth, 75ml/kg at 6 months age, and 70ml/kg after the

first year. The blood plasma (the liquid portion containing proteins,

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hormones, enzymes, and electrolytes) is in equilibrium with the fluid of

interstitial tissue spaces. Plasma is not a major site of hematologic disease.

The formed elements in the blood which include the erythrocytes (RBCs), the

leukocytes (WBCs), and thrombocytes (Platelets) are the portions most

affected by hematologic disorders in children.

Erythrocytes [Red Blood Cells (RBCs)

RBCs function chiefly to transport oxygen and carbon dioxide to and

from body cells. They are formed under the stimulation of erythropoietin

produced from the kidneys that is stimulated whenever a child has tissue

hypoxia. RBCs form first as erythroblasts (large, nucleated cells), then

mature through normoblast and reticulocyte stages to mature nonnucleated

erythrocytes. Approximately 1% of RBCs are in reticulocyte stage at all

times. An elevated reticulocyte count indicates that rapid production of new

RBCs is occurring. The absence of a nucleus in the mature RBCs allows for

increased space for oxygen transport, but it also limits the life of cells

because metabolic processes are limited. At the end of their lifespan (about

120 days), erythrocytes are destroyed by reticuloendothelial cells found in

the highest proportion in the spleen.

In infants, the long bones of the body are filled with red marrow

actively producing RBCs. In early childhood, yellow marrow begins to replace

this in long bones so blood element production is then carried out mainly in

the ribs, scapulae, vertebrae, and skull bones. The yellow marrow in the

extremities can be activated if necessary to additional blood products.

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At birth, an infant has approximately 5 million RBCs/mm3. This

concentration decreases rapidly in the first months, reaching a low of

approximately 4.1 million/mm3 at 3 to 4 months of age. The number then

slowly increases until adolescence, when the adult value of approximately

4.9 million/mm3 is reached.

Hemoglobin, a complex protein, is the component of RBCs that allows

them to carry out the transport of oxygen. It is composed of heme, an iron-

containing pigment and globin, a protein dependent on nitrogen metabolism

for its formation. The haemoglobin amount in blood varies according to the

number of RBCs present and the average amount of haemoglobin each cell

contains. Hemoglobin levels are highest at birth (13.7 to 20.1 g/100 ml); they

reach a low at approximately 3 months of age (9.5 t0 14.5 g/100 ml), and

then gradually rise again until adult values are reached at puberty (11 to 16

g/100 ml).

Bilirubin. After RBCs reach its lifespan, it disintegrates and its protein

component is preserved by specialized cells in the liver and spleen

(reticuloendothelial cells) for further use. Iron is released for reuse by the

bone marrow to construct new RBCs. As the heme portion is degraded, it is

converted into protoporphyrin. Protoporphyrin is then further broken down

into indirect bilirubin. Indirect bilirubin is fat soluble and cannot be excreted

by the kidneys in this state. It is therefore converted by the liver enzyme

glucoronyl transferase into direct bilirubin, which is water soluble. This is

then excreted in bile.

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In the newborn, generally liver function is so immature that the

conversion of from indirect bilirubin to direct bilirubin cannot be made.

Because of this, bilirubin remains in the indirect for. When the indirect

bilirubin in the blood is rises to more than 7mg/100ml. it permeates outside

the circulatory system, and the infant shows signs of yellowing or jaundice. If

excessive hemolysis (destruction) of RBCs occurs from other than natural

causes, a child will also show signs of jaundice.

Leukocytes [White Blood Cells (WBCs)

WBCs are nucleated cells. They are few in number compared with

RBCs, with approximately 1 WBC to every 500 RBCs. Their primary function

is defense against antigen invasion. They are classified as granulocytes

(those with granules in the cell cytoplasm) or agranulocytes (those without

granules in the cell cytoplasm). The granulocytes, collectively known as the

polymorphonuclear leukocytes, include the neutrophils, eosinophils, and

basophils. The agranulocytes are further differentiated as monocytes and

lymphocytes.

The neutrophils, the most numerous granulocytes are phagocytic

cells that engulf, ingest, and digest foreign materials. Worn-out neutrophils

form the main component of pus and the bone marrow produces their

replacements, called bands. In response to infection, bone marrow must

produce many immature cells. Another type of granulocytes is the

Eosinophil (accounts for 0.3% to 7% of circulating WBCs) which is involved

in the ingestion of antigen-antibody complexes. On the other hand, the

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basophils (usually constitutes fewer than 2% of circulating WBCs) are

granulocytes that possess little or no phagocytic ability but they secrete

histamine in response to certain inflammatory and immune stimuli.

Histamine makes the blood vessels more permeable and eases the passage

of fluids from the capillaries into body tissues.

The monocytes are the largest WBCs but they only constitute 0.6% to

9.6% of WBCs in circulation. They are phagocytic. Macrophages are

monocytes that roam freely through the body when stimulated by

inflammation; they defend against infection and dispose of cell breakdown

products, and they concentrate in the liver, spleen, and lymph nodes, where

they defend against invading organisms. They ingest microorganisms,

cellular debris, and necrotic tissue, phagocytize cellular remnants and

promote wound healing. The lymphocytes on the other hand are the

smallest WBCs but they are the second most numerous. They are derived

from stem cells in the bone marrow and have two types: the T lymphocytes

which directly attack an infected cell and the B lymphocytes which produce

antibodies against specific antigens.

A typical total white cell count is 5,000 to 10,000 cells/mm3 of blood.

The WBC count is approximately 20,000/mm3, a high level caused by the

trauma of birth. In the newborn, granulocytes are the most common WBCs.

By 14 to 30 days of life, the total WBC count falls approximately

12,000/mm3, and lymphocytes become the dominant type. By 4 years, the

WBC count reaches an adult level (5,000 to 10,000 cells/mm3), and

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granulocytes are again the dominant type. Leukocytes are produced in

response to need. Their life span varies from approximately 6 hours to

unknown intervals.

Thrombocytes (Platelets)

Thrombocytes are round, oval, or irregular biconvex discs. Each disc is

bounded by a plasma membrane within which there are mitochondria and

membrane bound vesicles. There is no nucleus. In ordinary blood films, the

platelets appear to have a clear outer zone (hyalomere) and a granular

central part (granulomere). The normal range is 150,000 to 300,000/mm3

after the first year. They originate in the bone marrow from a giant cell

known as a megakaryocyte. The megakaryocytes form platelets by pinching

off bits of cytoplasm and extruding them into the blood. The life of a platelet

is about 10 days

Platelets contain several clotting factors, calcium ions, ADP, serotonin,

and various enzymes. Their function is capillary hemostasis and primary

coagulation.

Hemostasis

Damage of the vasculature quickly leads to massive bruising and, if,

unrepaired, to extreme blood loss and consequently organ failure.

Hemostasis, the physiological processes that stop bleeding, is critical for

human health. The hemostatic system includes blood platelets, endothelial

cells, and plasma coagulation factors, which work together to rapidly form a

hemostatic plug in an injured blood vessel (The platelets play an important

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role in stopping bleeding by clumping together and forming a plug, thereby

beginning the repair of injured blood vessels. Clotting factors like factor VIII

and IX are then needed to glue the plug in place thus forming a clot.)

Hemostasis is activated on exposure to foreign surfaces during bleeding, by

torn tissue at the site of injury, or by products released from the interior of

damaged cells. It can be organized into four separate but interrelated

events: compression and vasoconstriction, the formation of a temporary

loose platelet plug, blood coagulation and, finally, clot retraction.

Physical and Chemical factors Immediately Act to Constrain

Bleeding (STEP 1)

Immediately after tissue injury, blood flow through the disrupted vessel

is slowed by the interplay of several important physical factors. These

include back-pressure exerted by the tissue around the injured area and

vasoconstriction. The degree of compression varies in different tissues; for

example, bleeding below the eye is not readily deterred because the skin in

this area is easily distensible. A black eye is the consequence. The back-

pressure increases as blood leaks out of the disrupted capillaries and

accumulates in the surrounding tissue. Sometimes, contraction of underlying

muscles further compresses the blood vessels. This is one of the

physiological actions to minimize blood loss from the uterus after childbirth.

In addition to physical aspects, damaged cells at the site of tissue injury

release potent chemical substances that directly cause blood vessels to

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constrict. These include serotonin, thromboxane A2, epinephrine, and

fibrinopeptide B.

Platelets Form a Hemostatic Plug (STEP 2)

Platelets (thrombocytes) are the major contributor of the second phase

of hemostasis. They are irregularly shaped, disk-like fragments of their

precursor cell, the megakaryocyte. They are to 1/3 the size of erythrocytes

(1.5 to 3.0 mcm). Several factors stimulate megakaryocytes to release

platelets within the bone marrow sinusoids. This include the hormone

thrombopoietin, which is mainly generated by the liver and the kidneys and

released in response to low numbers of circulating platelets. Platelets have

no defined nucleus but possess important proteins, which are stored in

intracellular granules and secreted when platelets are activated during

coagulation.

Platelets adhere to each other and to the endothelial surface of blood

vessels, forming multicellular aggregates. The aggregates form a physical

barrier that begins to limit blood loss soon after the opening in the blood

vessel occurs. Platelet adherence can be initiated by a variety of substances

that bind to receptors on the platelet surface. Disruption of the endothelium

at sites of tissue injury exposes proteins in the in the subendothelial matrix,

such as collagen and laminin, which induce or support platelet adherence.

Other plasma factors, or factors released by platelets during clotting, cause

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the upregulation of adherence of proteins, called integrins, on endothelial

cells. This in turn further activates the endothelial cells to release additional

hemostatic substances. One important factor is called von Willebrand factor.

It is a protein synthesized by endothelial cells and megakaryocytes that

enhances platelet adherence by forming a bridge between platelet surface

receptors and collagen in the subenothelial matrix.

Phospholipids on the platelet plasma membrane activate the enzyme

thrombin, which initiates a cascade of events ending in clot formation.

Ruptured cells at the site of tissue injury release adenosine diphosphate

(ADP), which causes platelets to aggregate at the damage site. Finally,

aggregated platelets discharge their storage granules and release factors

that enhance coagulation.

Blood Coagulation Results in the Production of a Fibrin Clot (STEP

3)

Normally during circulation, the blood does not clot because the

enzymes involved in clotting are in inactive form. During the process of blood

clotting, the clotting factors which are in inactive forms are converted into

active forms and their enzymatic actions process the successive reactions

one after another in a cascading manner. The process of clotting involves the

conversion of soluble blood protein. The fibrinogen (which are found

dissolved in plasma) into insoluble fibrous protein fibrin (which is in the form

of long delicate fibers). In general, clotting occurs in three stages: (1)

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formation of prothrombin activator, (2) conversion of prothrombin into

thrombin, (3) conversion of fibrinogen into fibrin.

1. Formation of prothrombin activator

The prothrombin activator is formed by the intrinsic and extrinsic

pathway.

Intrinsic pathway

As blood comes in contact with the exposed collagen of the injured

blood vessel, one of the clotting factors, Hageman factor (Also called Factor

XII), a chemical substance that is found circulating in the blood, is activated.

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The activation of Hageman factor starts a number of reactions in the area:

the clot formation process is activated, the clot-dissolving process is

activated, and the inflammatory response is started. The activated Hageman

factor activates clotting factor XI [plasma thromboplastin antecedent (PTA)].

The activated factor XI activates factor IX. Activated factor IX activates factor

X in presence of factor VIII and Ca++ (but in extrinsic pathway factor VII is

involved in the activation of factor X). The activated factor X along with Ca+

+ and factor V activates prothrombin. Prothrombin such formed has a

positive feedback effect through factor V. If it is unchanged, the clot will

continue to grow larger and larger. This feedback effect is checked by the

following: If the blood flow is maintained; plasmin or fibrinolysin is

introduced. Factor V is also activated by positive feedback effect of

thrombin. The intrinsic pathway ends with the conversion of prothrombin to

thrombin. Activated thrombin breaks down fibrinogen to form insoluble fibrin

threads which form a clot inside the blood vessel. The clot called a thrombus,

acts to plug the injury and seal the system.

Extrinsic pathway

While the coagulation process is going on inside the blood vessel via

the intrinsic pathway, the blood that has leaked out of the vascular system

and into the surrounding tissues is caused to clot by the extrinsic pathway.

Injured cells release a substance called tissue thromboplastin. The

thromboplastin contains proteins, phospholipid and glycoprotein, which act

as proteolytic enzymes. Tissue thromboplastin III activates factor VII.

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Clot Retraction (Step 4)

After the formation of blood clot, the clot begins to contract and after

about 30-45 minutes, a straw coloured fluid called serum oozes out of the

clot. The process involving the contraction of blood clot and oozing of serum

is called clot retraction. The contractile protein namely actin, myosin,

present in cytoplasm of platelets are responsible for clot retraction. It is the

process of tightening of the fibrin clot and is also known as syneresis. The

stabilized threads of fibrin fix themselves by their ends to ends of the

damage tissue close together so that they can seal the damage tissue.

For reference, specific clotting factors are identified in this table:

FACTO

RSTRUCTURE NAME SOURCE

CONCENTRATI

ON IN PLASMA

(mcg/ml)

PATHWAY

I Protein Fibrinogen Liver 2500-3500 Common

II Protein Prothrombin

Liver,

requires

vitamin K

100 Common

III Lipoprotein

Tissue factor

(TF)

Damage

d tissue,

Activatedplatelets

0 Extrinsic

IV Ion Calcium ions

Bone,

diet,

platelets

100Entire

process

V Protein Proaccelerin Liver,

platelets

10 Extrinsic

and

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intrinsic

VI(No longer

used)

VII Protein Proconvertin

Liver,

requires

vitamin K

0.5 Extrinsic

VIII ProteinAntihemophil

ic factor

Platelets,

endotheli

al cells

15 Intrinsic

IXProtein

factor

Plasma

thromboplas

tin

Liver,

requires

vitamin K

3 Intrinsic

X Protein

Stuart-

Prower

factor

Liver,

requires

vitamin K

10

Extrinsic

and

intrinsic

XI Protein

Plasma

thromboplas

tin

antecedent

(PTA)

Liver


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Another substance in the plasma, called plasmin or fibrinolysin,

dissolves clots to ensure free movement of blood through the system.

Plasmin is a protein-dissolving substance that breaks down the fibrin

framework of blood clots and opens up vessels. Its precursor, called

plasminogen, is made in the liver and is found in the plasma. The conversion

of plasminogen to plasmin begins with the activation of Hageman factor and

is facilitated by a number of other factors including antidiuretic hormone

(ADH), epinephrine, pyrogens, emotional stress, physical activity, and the

chemicals urokinase and streptokinase. Plasmin helps to keep blood vessels

open and functional. Very high levels of plasmin are found in the lungs

(which contain millions of tiny, easily injured capillaries) and in the uterus

(which in pregnancy must maintain a constant blood flow for the developing

fetus).

References:Alcamo, E. (2004). Anatomy and physiology the easy way. Barron's

educational series, p 293de Graaff, K, et. al.(1997). Schaum's outline of human anatomy and

physiology, p. 265

Frederic, et. al.(2007).Anatomy and physiology, p. 497

Karch, A.(2011).Focus on nursing pharmacology edition 5.Lippincott Williamsand Wilkins, pp. 764-766

Singh(2008).Anatomy and physiology for nurses. Jaypee brothers publishers,p. 112

Singh, I.(2008). Anatomy and physiology for paramedicals. Jaypee BrothersPublishers, pp. 102-105

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2.) Readings

Background

Haemophilia (from the Greek haima 'blood' and philia 'love')

is a group of hereditary genetic disorders that impair the body's ability to

control blood clotting or coagulation, which is used to stop bleeding when a

blood vessel is broken. The term "haemophilia" is derived from the term

"haemorrhaphilia" which was first used by Friedrich Hopff in 1828 (Wikipedia,

2012).

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The oldest recognition of hemophilia is an indirect reference in the

Talmud, a collection of Jewish religious writings from the 2nd century AD

which notes that male babies did not have to be circumcised if two brothers

had already died from the procedure. Hemophilia has been called The Royal

Disease because it afflicted the royal families of Europe during the reign of

Queen Victoria (1837- 1901) of England. The Queen was a carrier trait to her

daughters, who in turn passed it on to German, Spanish, and Russian royalty

in the nineteenth century (National Hemophilia Foundation, 2006).

Hemophilia is usually inherited. It is passed passed down from parents

genes to a child. The genes for hemophilia A and B are on the X

chromosome. For this reason, hemophilia is called an X-linked (or sex-linked)

disorder. Sometimes hemophilia can occur when there is no family history of

it. This is called sporadic hemophilia. About 30% of people with hemophilia

did not get it through their parents genes (World Federation of Hemophilia,

2012).

Types of Hemophilia

The three types of hemophila are types A, B, and C. In each case, a

different clotting factor is missing, making the task of blood clotting difficult

or impossible. In type A hemophilia, factor VIII is deficient. The person with

type B hemophilia lacks factor IX and with type C hemophilia lacks factor XI.

Types A and B are X-linked; therefore it occurs in men but is carried by

asymptomatic women. Type C hemophilia can occur in either sex. Some

cases of hemophilia result from a spontaneous gene mutation in persons

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with no previous family history of the disease. The two major forms of

hemophilia that can occur in mild to severe forms are hemophilia A (classic

hemophilia) and hemophilia B (Christmas disease). von Willebrands disease

is a related disorder involving a deficiency of the von Willebrands

coagulation protein.

Classification according to Severity

Severe Moderate MildFVIII or

FIX

activity

< 1% 1% 5% 6% 49%

Prevalence

60% ~15% ~25%

Cause of

bleedingSpontaneous

Minor trauma, not

commonly

spontaneous

Major trauma,

surgery

Frequenc

y of

bleeding

2 4/month 4 6/year Uncommon

Pattern

of

bleeding

Joint, soft tissue,

bleeding after

circumcision,

neonatal intracranial

hemorrhage,

bleeding with

surgical procedures

Joint, soft tissue +/-

bleeding after

circumcision, +/-

neonatal intracranial

hemorrhage,

bleeding with

surgical procedures

Joint, soft tissue,

+/- bleeding aftercircumcision,

bleeding with

surgical

procedures

Incidence

Hemophilia is the most common bleeding disorder. Hemophilia A is the

most common X-linked genetic disease and the second most common factor

deficiency after von Willebrand disease (vWD). The worldwide incidence of

hemophilia A is approximately 1 case per 5000 male individuals, with

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approximately one third of affected individuals not having a family history.

The prevalence of hemophilia A varies with the reporting country, with a

range of 5.4-14.5 cases per 100,000 male individuals. In the Philippines,

there are about 8,000 persons with hemophilia, but only 1,000 of them are

registered with the Philippine Hemophilia Foundation (PHF). In the United

States, the prevalence of hemophilia A is 20.6 cases per 100,000 male

individuals, with 60% of those having severe disease. An estimated 17,000

people were affected with hemophilia A in the United States in 2003.

Hemophilia A occurs in all races and ethnic groups. In general, the

demographics of hemophilia follow the racial distribution in a given

population; for example, rates of hemophilia among whites, African

Americans, and Hispanic males in the US are similar. Because hemophilia is

an X-linked, recessive condition, it occurs predominantly in males. Females

usually are asymptomatic carriers. However, mild hemophilia may be more

common in carriers than previously recognized. In 1 study, 5 of 55 patients

with mild hemophilia (factor levels 5-50%) were girls. Females may have

clinical bleeding due to hemophilia if 1 of 3 conditions is present: (1) extreme

lyonization (ie, inactivation of the normal FVIII allele in one of the X

chromosomes), (2) homozygosity for the hemophilia gene (ie, father with

hemophilia and mother who is a carrier, two independent mutations, or some

combination of inheritance and new mutations), or (3) Turner syndrome (XO)

associated with the affected hemophilia gene (Zaiden, 2012).

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Hemophilia A

Hemophilia A is referred to as classic hemophilia and was first

recognized in the second century AD. The disease is an X-linked bleeding

disorder caused by defects in

the clotting cascade enzyme factor

VIII. Factor VIII serves as a cofactor in

the activation of factor X to Xa in a

reaction referred to as the "tenase"

complex.

When one of the proteins, for

example, factor VIII, is absent, the

dominos stop falling (coagulation cascade), and the chain reaction is broken.

Clotting does not happen, or it happens much more slowly than normal. The

platelets at the site of the injury do not mesh into place to form a permanent

clot. The clot is 'soft' and easily displaced. Without treatment, bleeding will

continue until the pressure outside the broken vessel is equal to the pressure

inside. This can take days and sometimes weeks (Canadian Hemophilia

Society, 2012).

Etiology

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Hemophilia A is caused by an inherited or acquired genetic mutation or

an acquired factor VIII inhibitor. The defect results in the insufficient

generation of thrombin by the FIXa and FVIIIa complex by means of the

intrinsic pathway of the coagulation cascade. This mechanism, in

combination with the effect of the tissue-factor pathway inhibitor, creates an

extraordinary tendency for spontaneous bleeding.

This disorder is inherited in an X-linked recessive pattern. The gene for

FVIII is located on the long arm of the X chromosome in band q28. The factor

VIII gene is one of the largest genes; it is 186 kilobases (kb) long and has a

9-kb coding region that contains 26 exons. The mature protein contains 2332

amino acids and has a molecular weight of 300 kd. It includes 3 A domains, 1

B domain, and 2 C domains.

Multiple mutations have been identified leading to hemophilia A. These

include frameshift mutations, missense mutations, nonsense mutations,

gene inversions, large deletions and splicing errors.

Inheritance of Hemophilia A

Sex is determined by sex chromosomes. Females have XX

chromosomes, and males have XY sex chromosomes. Scientists have

discovered that the X chromosome carries many more genes than the Y

chromosome and the Y chromosome is very small. Hemophilia in humans is a

classic example of Mendelian trait that resides on the X chromosome.

Hemophilia affects mostly males, because it is an X-linked recessive

disease. Although it is possible for a female to get the disease, both of her

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parents would have to either have the disease or her dad have the disease

and her mom be a carrier. The Hemophilia gene is carried on the X

chromosome, so females with two X chromosomes can be heterozygous

carriers and not have the disease. Men, however, only have one X

chromosome, so they will inherit the disease with only one hemophilia gene

on the X chromosome because they dont have a second healthy, normal

allele. A heterozygous mother who carries the hemophilia gene will pass

allele for the disease on to her son 50% of the time and her daughter 50% of

the time. An infected father can never pass the disease to his sons because

he only gives his sons a Y chromosome. On the contrary, an infected father

will always pass the disease onto his daughters, making them carriers.

Below are two examples of how the hemophilia gene is inherited.

Inheritance Pattern for HemophiliaExample 1

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In example 1, the father doesn't have hemophilia (that is, he has two

normal chromosomesX and Y). The mother is a carrier of hemophilia (that

is, she has one faulty X chromosome and one normal X chromosome). Each

daughter has a 50 percent chance of inheriting the faulty gene from her

mother and being a carrier. Each son has a 50 percent chance of inheriting

the faulty gene from his mother and having hemophilia (National Heart,

Lung, and Blood Institute, 2011).

Inheritance Pattern for HemophiliaExample 2

In this example, the father has hemophilia (that is, his X chromosome

is faulty). The mother isn't a hemophilia carrier (that is, she has two normal X

chromosomes). Each daughter will inherit the faulty gene from her father

and be a carrier. None of the sons will inherit the faulty gene from their

father; thus, none will have hemophilia.

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Females who are hemophilia carriers usually have enough clotting

factors from their one normal X chromosome to prevent serious bleeding

problems. However, up to 50 percent of carriers may have an increased risk

of bleeding. Very rarely, a girl is born with hemophilia. This can happen if her

father has hemophilia and her mother is a carrier. Some males who have the

disorder are born to mothers who aren't carriers. In these cases, a mutation

(random change) occurs in the gene as it is passed to the child (National

Heart, Lung, and Blood Institute, 2011).

Clinical Features of Hemophilia A

The frequency and severity of the bleeding in hemophilia A patients is

inversely correlated to the level of residual factor VIII protein circulating in

the blood. The weight bearing joints are the ones most affected in the

disease and include the hips, knees, ankles and elbows. If the bleeding in the

joints is left untreated it will lead to severe swelling and pain, joint stiffness

and inflammation. Blood in the synovial fluid of the joints is highly irritating

causing synovial overgrowth and a tendency to cause additional bleeding

from the vascular tissues of the joint. The bleeding results in the deposition

of iron in chondrocytes with the consequences being the development of

degenerative arthritis. Muscle bleeding, like joint bleeding, is most prevalent

in large load-bearing muscle groups such as in the thigh, calf, buttocks and

posterior abdominal wall.

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The major signs and symptoms of hemophilia are excessive bleeding

and easy bruising.

Excessive Bleeding

The extent of bleeding depends on how severe the hemophilia is.

Approximately 30-50% of patients with severe hemophilia present with

manifestations of neonatal bleeding (eg, after circumcision). Approximately

1-2% of neonates have intracranial hemorrhage. Other neonates may

present with severe hematoma and prolonged bleeding from the cord or

umbilical area. Children who have mild hemophilia may not have signs

unless they have excessive bleeding from a dental procedure, an accident,

or surgery. Males who have severe hemophilia may bleed heavily after

circumcision.

Bleeding can occur on the body's surface (external bleeding) or inside

the body (internal bleeding).

Signs of external bleeding may include:

Bleeding in the mouth from a cut or bite or from cutting or losing a

tooth

Nosebleeds for no obvious reason

Heavy bleeding from a minor cut

Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding may include:

Blood in the urine (from bleeding in the kidneys or bladder)

Blood in the stool (from bleeding in the intestines or stomach)

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Large bruises (from bleeding into the large muscles of the body)

Bleeding in the Joints

Bleeding in the knees, elbows, or other joints is another common form

of internal bleeding in people who have hemophilia. This bleeding can occur

without obvious injury.

At first, the bleeding causes tightness in the joint with no real pain or any

visible signs of bleeding. The joint then becomes swollen, hot to touch, and

painful to bend.

Swelling continues as bleeding continues. Eventually, movement in the joint

is temporarily lost. Pain can be severe. Joint bleeding that isn't treated

quickly can damage the joint.

Bleeding in the Brain

Internal bleeding in the brain is a very serious complication of hemophilia.

It can happen after a simple bump on the head or a more serious injury. The

signs and symptoms of bleeding in the brain include:

Long-lasting, painful headaches or neck pain or stiffness

Repeated vomiting

Sleepiness or changes in behavior

Sudden weakness or clumsiness of the arms or legs or problems

walking

Double vision

Convulsions or seizures

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The primary signs and symptoms of hemophilia are

excessive/prolonged bleeding and easy bruising. In general, musculoskeletal

bleeding is the hallmark of hemophilia. The extent of these symptoms

depends on the type of hemophilia and the severity of the underlying

deficiency.

Common symptoms of hemophilia include the following:

Joint bleeding or hemarthrosis

Soft tissue bleeding or development of hematoma after minor trauma

Bleeding after circumcision

Easy or excessive bruising

Prolonged bleeding after oral injury

Bleeding associated with surgery or invasive procedures

Bleeding into the joints

Spontaneous or trauma-induced bleeding into the joints (hemarthrosis)

is the primary cause of chronic pain and disability among individuals with

severe hemophilia. Chronic bleeding into the joints disrupts the joint lining

(synovium) and causes joint damage, resulting in the painful arthritic

condition known as hemophilic arthropathy. Bleeding most commonly occurs

in the knees, elbows, ankles, and hips; but can occur in any joint. While joint

bleeding can occur in all severities of hemophilia, spontaneous joint bleeding

tends to be most common in individuals with severe hemophilia. In

individuals with moderate and especially with mild hemophilia, trauma or

injury usually initiates joint bleeding.

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Symptoms of joint bleeding are not always immediately apparent. The

initial symptom is often tingling or tightness in the joint with no real pain or

visible signs of bleeding. As bleeding continues, the joint becomes swollen,

warm to touch, and painful to move. Swelling increases as bleeding

continues and movement can be temporarily lost. Pain can be severe. Joint

bleeding must be treated quickly and aggressively to prevent permanent

joint damage. Untreated joint bleeding can be debilitating, as chronic pain,

swelling, and permanent joint damage lead to limited mobility and decreased

quality of life.

Bleeding in soft tissue

Soft tissue (muscular) bleeding, such as in the iliopsoas muscle, can

cause severe anemia and hemodynamic instability. Bleeding within

compartments such as the forearm or lower extremity can

cause compartment syndrome. These patients present with significant

neurovascular compromise and symptoms of pain, tingling, numbness or

paresthesis. Compartment syndrome requires immediate specific treatment

with hemostatic agents and consideration of decompression of neurovascular

structures.

Bleeding in the central nervous system

Bleeding in the central nervous system causes significant morbidity

and mortality in patients with hemophilia. These patients can present with

the following symptoms:

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Head headache, neck pain, sleepiness, sensitivity to light, nausea,

vomiting, loss of consciousness or seizures.

Spinal cord weakness, tingling, or pain in the arms or legs; difficulty

with urination or bowel movements, back pain, loss of movement.

Bleeding in the gastrointestinal tract

Individuals with hemophilia may experience gastrointestinal bleeding with

bloody emesis or lower intestinal bleeding such as hematochezia. These

bleeding events could be due to bleeding ulcers or bleeding from a

diverticulum. Depending on the site of bleeding, the manifestations of

gastrointestinal bleeding may range from fresh or brown-colored emesis to

black and tarry stools.

Life-threatening bleeding events in patients with hemophilia

Rarely patients can have bleeding within vital internal organs or

structures. These are often life-threatening bleeding events.

1. Bleeding into the central nervous system

2. Bleeding within vital structures such as head, neck, or intrathoracic

region

3. Bleeding within internal organs such as liver and spleen

4. Bleeding in a large muscle group, such as iliopsoas

5. Gastrointestinal bleeding

Diagnostic Procedures

If a bleeding problem is suspected, the following tests from a single

blood sample will help diagnose hemophilia, its type, and its severity:

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Complete Blood Count (CBC) measures the amount of hemoglobin (the

red pigment inside red blood cells that carries oxygen), the size and

number of red blood cells and numbers of different types of white

blood cells and platelets found in blood. The CBC is normal in people

with hemophilia. However, if a person with hemophilia has unusually

heavy bleeding or bleeds for a long time, the hemoglobin and the red

blood cell count can be low (World Federation of Hemophilia, 2012).

Prothrombin time (PT) measures certain clotting factors other than

those related to hemophilia. Most people with hemophilia have normal

results from this test. PT results may be abnormal if another condition

is causing bleeding problems (Web MD, 2009).

Activated partial thromboplastin time (aPTT) measures clotting factors

VIII or IX that are absent or not working properly in people with

hemophilia. If aPTT is elevated, it may indicate hemophilia. But this

test cannot determine which type of hemophilia (A or B) is present or

even if the defect is in factor VIII or IX. A person with hemophilia

usually has abnormal aPTT test results (Web MD, 2009).

Laboratory Results in Hemophilia A

PT Normal

APTT Abnormal

Bleeding Time Normal

Platelet count Normal

Factor VIII: C Assay Abnormal

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Mixing tests mix the plasma of the patient with normal plasma to see if

it reaches a normal level of clotting factor. If the plasma doesn't reach

a normal level, it may mean that blood has developed inhibitors that

are interfering with clotting factor VIII or IX. If this occurs, it may mean

that having a very rare condition called acquired hemophilia (Web MD,

2009).

Amniocentesis and chorionic villus sampling (CVS) to test the fetus for

the genetic defect that causes hemophilia during pregnancy. If the

fetus is found to have hemophilia, the mother may choose whether to

complete or terminate the pregnancy. With modern therapies and by

being as careful as possible to prevent bleeding, people with

hemophilia can expect to live a normal life span. A child can be tested

for hemophilia A after birth with a sample of blood that is taken from

the umbilical cord. Testing for hemophilia B in newborns is not

effective because newborns naturally have lower levels of clotting

factor IX. Blood tests for clotting factor IX deficiency are more effective

after a child is 6 months old (Web MD, 2009).

Clotting factor tests, also called factor assays, are required to diagnose

a bleeding disorder. This blood test shows the type of hemophilia and

the severity. The severity describes how serious a problem is. The level

of severity depends on the amount of clotting factor that is missing

from a persons blood (World Federation of Hemophilia, 2012).

Treatment Options

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Prevention

Hemophilia cannot be cured, however, patients who start prophylaxis

early (mean age of 3 years) show a better muscuoloskeletal outcome and

fewer joint bleeds. People with hemophilia should take the following

precautions:

Avoid taking aspirin and nonsteroidal anti-inflammatory drugs

(NSAIDs).

Get vaccinated (including infants) with the hepatitis B vaccine.

Administer factor VIII on a regular basis, to help prevent bleeding and

joint damage.

Avoid circumcising male infants of women known to be carriers until

the baby has been tested for hemophilia.

Carry information at all times identifying the person as someone with

hemophilia.

Treatment Plan

The primary treatment for moderate-to-severe hemophilia is factor

replacement therapy, which replaces the blood's deficient clotting factor.

Regular infusions of clotting factor several times a week reduces the risk of

bleeding. If internal bleeding has damaged joints, physical therapy or, in

severe cases, joint replacement may restore function.

Drug Therapies

A health care provider may prescribe the following medications:

Factor VIII or IX replacement therapy

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General Guidelines for Factor Replacement for the Treatment of

Bleeding in Hemophilia

Indication or Site ofBleeding

Factor

levelDesire

d, %

FVIII

Dose,

IU/kg*Comment

Severe epistaxis; mouth,

lip, tongue, or dental work20-50 10-25

Consider aminocaproic acid

(Amicar), 1-2 d

Joint (hip or groin) 40 20Repeat transfusion in 24-48

h

Soft tissue or muscle 20-40 10-20

No therapy if site small and

not enlarging (transfuse if

enlarging)

Muscle (calf and forearm) 30-40 15-20 NoneMuscle deep (thigh, hip,

iliopsoas)40-60 20-30

Transfuse, repeat at 24 h,

then as neededNeck or throat 50-80 25-40 None

Hematuria 40 20Transfuse to 40% then rest

and hydration

Laceration 40 20Transfuse until wound

healedGI or retroperitoneal

bleeding60-80 30-40 None

Head trauma (no evidenceof CNS bleeding)

50 25 None

Head trauma (probable or

definite CNS bleeding, eg,

headache, vomiting,

neurologic signs)

100 50

Maintain peak and trough

factor levels at 100% and

50% for 14 d if CNS bleeding

documented

Trauma with bleeding,

surgery80-100 50 10-14 d

Pain relievers other than aspirin or NSAIDs (Aleve, Motrin, ibuprofen),

as they decrease the blood's ability to clot

Topical medications to control bleeding

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The drug desmopressin (DDAVP) may be used in mild cases of

hemophilia A to stimulate low levels of clotting factor

Somatic gene cell therapy

Surgical and Other Procedures

Certain types of surgery may become necessary, including:

Joint replacement

Removal of an uncontrollable, expanding hematoma (partially clotted

blood under the skin that resembles a bruise)

Nutrition

No studies have examined the link between nutrition and hemophilia.

However, avoid vitamin E and fish oil supplements as they seem to increase

bleeding time by keeping platelets from clumping. Vitamin K plays a role in

normal clotting and may be useful either from dietary sources or in

supplement form, but research is needed in this area. Do not take vitamin

K supplements without prescription.

Herbs

No studies have examined the value of herbs for hemophilia

specifically, and haemophiliacs should never use herbal therapies without

doctor's supervision. However, based on their own experience, health care

providers may recommend the following herbs to strengthen blood vessels

and act as astringents (causing contraction) to make bleeding less severe. In

addition, people with hemophilia should avoid the following herbs, which

tend to make bleeding more severe:

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Ginkgo (Ginkgo biloba)

Garlic (Allium sativum)

Ginger (Zingiber officinale)

Ginseng (Panax spp.)

Horse chestnut (Aesculus hippocastanum)

Turmeric (Curcuma longa)

White Willow (Salix alba)

Since herbs can affect clotting in one way or another, people with hemophilia

should take herbs only under a doctor's supervision.

Homeopathy

Few studies have examined the effectiveness of specific homeopathic

remedies. However, several case reports found that the following remedies

were helpful for people with hemophilia and even reduced their need for

blood clotting substances like factor VIII. Before prescribing a remedy,

homeopaths take into account a person's constitutional type the physical,

emotional, and intellectual makeup. An experienced homeopath assesses all

of these factors, as well as any current symptoms when determining the

most appropriate remedy for a particular person.

Arnica -- for internal or external bleeding immediately following an

injury. It is helpful for shock or trauma.

Carbo vegetabilis -- for people with pale skin and weakness who are

extremely frail, even listless, but like cold and fresh air.

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Crotalus horridus -- used when there is bleeding into the muscles and

when blood appears thin and dark. This remedy is most appropriate for

people who are tall, thin, and pale and have diarrhea and an aversion

to warm food and drink, or may have fears of being alone and death.

Hamamelis -- for bleeding from a cut or wound, especially useful in

nosebleeds, hemorrhoids, and broken blood vessels in the eye.

Lachesis -- for heavy bleeding that is dark in color, especially in red-

headed individuals who are jealous and depressed.

Millefolium -- for internal or external wounds with significant bleeding

and poor clotting.

Phosphorus -- for frequent, heavy bleeding. This remedy is most

appropriate for people who have cold sweats and desire to drink

alcoholic beverages. The person may also feel as though clothing

aggravates the throat.

Secale -- for bleeding that is worsened by heat and lessened by cold.

Physical Medicine

Regular exercise can build strong muscles and help prevent joint problems.

People with hemophilia can exercise safely, although they should avoid

contact sports. Physical therapy may also play an important role in reducing

joint problems caused by repeated bleeding in those areas. Hemophiliacs

physical therapist may recommend the following exercises:

Stretching

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Movement exercises

Resistance training (such as weight lifting)

Emerging therapy

Scientists are optimistic about the future of gene therapy as a cure.

Gene replacement therapy seeks to replace the defective gene with a

normal, healthy one. Gene therapy might be able to cure an individual;

however, the defective gene would still be passed on to his descendants.

Gene therapy is still being tested for long-term side effects, but scientists

hope that in the near future gene replacement will be available for the public

(NCBI, 2004). Germline therapy is the correcting of all diseased cells,

including reproductive ones, which would eradicate the disease completely.

Germline therapy would have to be preformed at the embryonic stage of

birth, and too many ethical questions exist at this time to begin testing on

humans (National Hemophilia Foundation, 2004).

Complications

Complications may occur from the condition or from the treatment for the

condition:

Deep internal bleeding. Hemophilia may cause deep muscle

bleeding that leads to swelling of a limb. The swelling may press on

nerves and lead to numbness or pain. This may result in a reluctance

to use that limb.

Damage to joints. Internal bleeding may also put pressure on and

damage joints. Pain sometimes may be severe, and hemophiliacs may

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be reluctant to use a limb or move a joint. If bleeding occurs frequently

and hemophiliacs don't receive adequate treatment, the irritation may

lead to destruction of the joint or the development of arthritis.

Infection. People with hemophilia are more likely to receive blood

transfusions and are at greater risk of receiving contaminated blood

products. Until the mid-1980s, it was more likely for people with

hemophilia to become infected with the human immunodeficiency

virus (HIV) or with hepatitis through contaminated blood products.

Since then, blood products are much safer because of steps taken to

screen the supply of donated blood. The risk of infection through blood

products also has decreased substantially since the introduction of

genetically engineered clotting products called recombinant factors,

which are free of infection. However, it's still possible for people who

rely on blood products to contract diseases.

Adverse reaction to clotting factor treatment. In some people

with hemophilia, the immune system sees these clotting factor

treatments as foreign. When this happens, the immune system

develops proteins that inactivate the clotting factors used to treat

bleeding. Researchers are investigating treatments to dampen the

immune system's response and allow continuing treatment with

clotting factors.

Peripheral neuropathy, pain, paresthesia,a nd mucle atrophy due to

bleeding near peripheral nerves

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Ischemia and gangrene due to impaired blood flow through a major

vessel distal to bleed

Decreased tissue perfusion and hypovolemic shock (shown as

restlessness, anxiety, confusion, pallor, cool and clammy skin, chest

pain, decreased urine output, hypotension, and tachycardia)

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RISK FACTORS:

Heredity

Gender

Autoimmune disorders

Factor VIII deficiency Dysfunctional factor VIII Factor VIII inhibition

level of prothrombin activator in the blood thrombin fibrin

Dysfunctional clot formation

Bleeding

Outpouring of plasma and blood substances

Activation of inflammatory response

RUBOR CALOR

TUMOR/swelling Nerve damage DOLOR LOSS OF FUNCTION

Decreased tissue perfusion Decreased cardiac output Decreased stroke volume Decreased Venous return Decreased blood volume

Ecchymosis

/Hematoma

JOINTS

Disruption of

SynoviumJoint damageHaemophilic

arthropathy

SPINAL CORDDecompression of

Neurologic StructuresWeakness

Tingling

pain in the arms orlegs

difficulty with

urination or bowel

movements

back ain

SOFT TISSUE(MUSCULAR)

BLEEDINGAccumulation of blood in

compartmentsElevated compartment

pressureDecompression of

Neurologic StructuresTingling

Numbness

HEADDecompression of

Neurologic StructuresHeadache

neck pain

sleepiness

sensitivity to light

nausea

vomitingloss of

consciousness

GIT

Hematemesis

Hematochezia

Melena

RE

Hem

Restlessness

Anxiety

Confusion

Pallor

cool and

clammy skin

chest pain

decreased urine

output

hypotension

tachycardia


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References:

Canadian Hemophilia Society.(2012). The symptoms of hemophilia.. Accessed 2012 October 1.

Genetics Home Reference.(2012). Hemophilia.. Accessed 2012 October2.

Indiana Hemophilia and Thrombosis Center.(2012).Hemophilia A and B.Accessed 2012 October 2.

Moake, J.,MD .(2009).Hemophilia.The Merck Manual for Health CareProfessionals.Accessed2012 October 2.

National Heart, Lung, and Blood Institute.(2011). What Causes Hemophilia?..Accessed 2012 October 2.

National Hemophilia Foundation.(2006).History of bleeding disorders.. Accessed 2012October 1.

Zaiden, R. MD, et. al(July 12, 2012).Hemophilia a.Medscape..Accessed 2012 October 4.

Web MD.(2009). Hemophilia-exams and tests.< http://www.webmd.com/a-to-z-guides/hemophilia-exams-and-tests> Accessed 2012 October 1.

Wikipedia.(2012).Haemophilia..Accessed 2012 October 1.

World Federation of Hemophilia.(2012).How do you gethemophilia?.. Accessed2012 October 2.

World Federation of Hemophilia.(2012).Severity of hemophilia. Accessed 2012 October 1.

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FAMILY BACKGROUND

FAMILYMEMBER

SEX AGE CIVILSTATU

S

RELATIONSHIP TO THECLIENT

EDUCATIONAL

ATTAINMENT

OOCUPATION

RELIGION RESIDENCE

Manayon Reyes M 61 Married Grandfather High SchoolGraduate

Farmer Aglipayan #10, ParparurocVintar, Ilocos Nor

Sanita Reyes F 56 Married Grandmother High SchoolGraduate

Vendor Aglipayan #10, ParparurocVintar, Ilocos Nor

ReynanteReyes

M 37 Single Father High SchoolGraduate

None Aglipayan #10, ParparurocVintar, Ilocos Nor

Lerma Laman F 34 Single Mother High SchoolLevel 4th year

None Aglipayan Bacarra, IlocosNorte

John ReynonReyes

M 10 Single Patient ElementaryLevel 4th

grade

None Aglipayan #10, ParparurocVintar, Ilocos Nor

ChristianReyes

M Deceased

Single Brother ------ ---- Aglipayan ----


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The patient belongs to an extended type of family consisting of a

grandfather, a grandmother and a grandchild in one house. The patient is

under the care of his grandparents (father side) because his parents are

separated and have their own families now. The patients father is currently

living at Brgy. Parparuroc, Vintar, Ilocos Norte where the patient also resides.

He has 2 half-siblings: a girl and a boy. On the other side, his mother lives

with her new husband at Bacarra, Ilocos Norte and has a male child.

Mr. Manayon, the grandfather of the patient, is a 61 year-old high

school graduate and is the head of the family. He raises his family through

farming. Mrs. Sanita, 56 years old, is the wife of the head of the family and

the grandmother of our patient. She sells vegetables in the morning and

banana cue and other food in the afternoon. She uses their bicycle to go

house-to-house and sell those. She claimed that there is a beneficial effect of

being an extended family with only 3 members because they do not worry

too much on their daily expenses. According to her, their daily needs are

being fully met because of their family size. The form of their family based

on descent is patrilineal since they are affiliated with their fathers relatives.

Likewise, based on residence, their family is considered to be patrilocal since

they are currently living at #10 Parparuroc, Vintar, Ilocos Norte where his

fathers family and relatives live. The form of their family based on authority

is egalitarian since the authority is vested to both the grandparents.

However, if there are some points where Mr. Manayon is at the field and

certain decisions are to be made, Mrs. Sanita is the one to decide and

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likewise; if Mrs. Sanita is not at their home and decisions are to be made,

only Mr. Manayon decides.

When it comes to decision making, both grandparents are involved.

Both the grandparents take the responsibility in allocating their daily budget

may it be for their food, the patients school-related expenditures and others.

When it comes to health aspect, Mrs. Sanita is always the one who opts to

seek for consultation especially when it comes to the patients condition. In

line with this, the grandparents usually do not spend money because their

family had been chosen as one of the members of the governments project,

PhilHealth.

The grandparents have no vices. Mr. Manayon usually spends his time

in the field while Mrs. Sanita spends some of her time selling vegetables and

other food for snacks. Afterwards, she just stays at home, cleaning, doing the

household chores and taking care of her grandson at times.

The family has a good relationship towards one another. At times, our

patient is hard-headed and naughty but the couple just ignores this attitude

of him. The patient apologizes whenever he commits mistake and in return,

the couple forgives him immediately. The couple shows affection towards

their grandson. They always assure that everything their grandson wants will

be granted. They often use Iloko as their form of communication.

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SOCIO ECONOMIC STATUS

The family monthly expenses are summed up to Php. 2, 900.00

ALLOCATION OF INCOME

Food: Php. 1,000.00

Education:

Allowance and School Contributions Php. 750.00

Electric Bill: Php. 600.00

Transportation: Php. 250.00Groceries:

Coffee and other condiments Php. 150.00

Miscellaneous: Php. 150.00

TOTAL: Php. 2, 900.00

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Farming: (Fertilizer, Labour, Seedlings) Php. 4,000.00

(per cropping season)

The monthly income of the family is Php. 3, 500. The main source of the familys income

comes from Mrs. Sanitas wage. She earns a salary of Php. 2, 000.00 a month from selling

vegetables and food for snacks. At present Mr. Manayon monitors a 1000 m 2 field which they

usually plantpalay during rainy season. Mr. Manayon said that they usually yield 10-12 sacks of

unmilled whole grains of rice. From these 10-12 sacks, about 6-7 sacks are being sold by the

couples in the market for less than Php.600.00/sack or a total of Php.4, 000 and the remaining 5

sacks are being kept by the couple for their daily consumption. The Php. 4,000 is being used for

the fertilizer, labour and seedlings. During dry season, they plant tomatoes and any other

vegetables. Mrs. Sanita goes house-to-house and sells the harvested tomatoes and other

vegetables. At times, she harvests banana at their backyard and sells it to their neighbour. In

addition to the Php.2, 000 income of Mrs. Sanita, their daughter, Ms. Mary Anne supplies them

with their necessities and even gives them Php. 1000 a month. Also, Mr. Manayons brother also

adds to the income of their family. He gives them Php. 500 a month. This makes their total

income of Php. 3, 500.00.

From, Mrs. Sanitas monthly income of Php.2,000 and the support they receive from their

relatives, Php. 500 from Mr. Manayons brother and Php. 1000 from Ms. Mary Anne, their

daughter; summing their monthly income to Php. 3500.00. The Php. 1, 500.00 given by the

relatives is being utilized for their foods, for the patients education and a portion of this are

being used for the familys miscellaneous. The family usually spends a total of Php.2, 900.00

thus, their net income is Php 600.00.

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In the farm crops (tomatoes,palay), the family gains Php. 5,000 but they also spend Php.

4, 000 for fertilizers, labor per cropping season. Thus, their net income is (Php.166-167/month)

Php. 1,000 in 6 months or per cropping season.

Both the grandparents take charge in allocating their budget. But when it comes to their

food budget, Mrs. Sanita takes a bigger responsibility on this. She is also the one who buys their

food. She usually goes to market twice a week with a budget of Php125.00/market day and a

total of Php. 1000 in a month. With a Php125.00 budget, Mrs. Sanita buys a half kilo of fish,

usually tilapia, if not, a half kilo of pork or chicken. She always buys at least kilo of hotdog

for his grandson. They do not buy vegetables because they have plenty at their backyard.

In addition, the couple only sets Php 150 a month from their income for their groceries

because their daughter is the one who supplies them with their necessities. However, at times,

they have supply shortage and so they buy grocery items at the store near their house.

Also, Php. 250 is allotted for their travel expenses. The family has a motorcycle and is

only used by the family. Mr. Manayon uses their motorcycle daily to send and fetch their

grandchild to and from his school which is 200m away from their house. Also, when Mr.

Manayon is not busy in the farm, he accompanies his wife in buying their food in the market.

According to Mrs. Sanita, they would spend about Php 60-70 weekly for their motorcycles

gasoline.

The grandparents allot a big amount from their income for their grandsons education

expenses including his allowance, contributions at school and the likes, amounting to Php 750 a

month. Our patient, being at the 4 th grade now has a daily allowance of Php. 20 30.00. He has a

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stable school contribution of Php. 75.00 for the schools electric bill, the payment of their janitor

and the like.

Among the family members, 2 of them have cellular phones: Mrs. Santa and the patient,

John. The couple usually spends nothing for their load because it is being supplied by Ms. Mary

Ann, the daughter of the couple. The cellular phones serve as their means of communication like

for example, when our patients class is about to end, he would text his grandmother to fetch him

up.

Also, the family spends Php. 600 for their electric bill. They own 1 television which is

being used by the family members at times as their form of relaxation. They also have a DVD

player which is infrequently used. Two stand fans are owned by the family and most of the time,

these are being utilized by the family members. 8 light bulbs, one at their kitchen, 1 bulb each in

their 2 bedrooms, 1 at the receiving area, 1 in front of their house, 1 at their CR, 2 at the back of

their house. Among these bulbs, only 3 (CR, receiving area and in front of their house) are

frequently being used.

Ms. Mary Anne is the one who buys and provides the grandparents with LPG tank which

costs Php.740.00 for cooking purposes. According to Mrs. Sanita, it usually lasts for 6 months

because she seldom use it. She only uses it for emergency cases. She prefers to use charcoals or

wood taken at the mountain. Ms. Mary Anne also supplies the patient with his clothing. She also

provides and buys the vitamins of the patient. For the grandfathers multivitamins, it is being

supplied by theirabalayan.

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When it comes to their water/drinking expenditures, they do not spend even a single

penny for this. They own a water pump which is being utilized by the family for bathing,

drinking and cooking.

Whenever our patient seeks for consultation or when he is hospitalized, their expenses are

being handed to the government through the PhilHealth. For the blood transfusion and other

interventions not being handed by the PhilHealth, Ms. Mary Anne takes charge of the hospital

expenses and sometimes, Eddison also contributes for the payment of the patients hospital bills.

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GENOGRAM

Manayon, 61 Sanita, 56 Isabel, 54 Robert, Leukemia

Eddison, 39 Mary Anne, 38 Reynante, 37 Lerma, 34 ?, Hematoma ? ?

?

John Reynon, 10 Christian LEGEND:

- Male - Possib

Hemophilia

- Female - Patient

- Deceases - Hemophil


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- Separated ? - Not Know


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D. HEALTH HISTORY

FAMILY HEALTH HISTORY

Common illnesses were experienced by all, if not, some of the family

members. The family experienced having cough, colds, fever and headache

throughout their lives which lasted for 2-3 days. Some of the family members

like Mr. Reynante and Ms. Mary Anne had chicken pox during their

elementary days. It was managed through staying at home and having

adequate rest. And after all the blisters had appeared in their skin surfaces,

Mrs. Sanita would make them an arabu-uban of onion peelings every

afternoon. They just have to wait until the blistersre gone. According to Mrs.

Sanita, it lasted for 7-10 days. Measles was experienced by the family as

well; it was treated through wearing of black pants and long sleeves.

Likewise, after all the blisters had appeared, Mrs. Sanita would make them

an arabu-uban of onion peelings once a day. Her children experienced

having this when they were in their teenage years. She also believed in the

actions of akot-akot when her children had mumps. The akot-akot is mixed

with warm water and is applied to the affected area every time the akot-akot

gets dry. It lasted for 3 days. She found this intervention effective.

The family uses alternative managements for health care like the use

of herbal medicines like decoction of oregano for cough. The oregano

decoction is being drunk by the family member twice a day, once in the

morning and one at night with 1-2 tablespoons. The sick family member also

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takes OTC drugs like Robitussin 1 capsule once a day. They also use and

drink a half-glass of calamansi juice mixed with water and added with 1-2

teaspoons of sugar whenever they have colds and OTC drugs as well like

Neozep 1 tablet, thrice a day. Whenever a family member experiences such,

TSB is also being performed by the family. In addition, Paracetamol 1 tablet,

once a day for fever. They also consult quack doctors as verbalized by Mrs.

Sanita, Wen mamati kami met iti albularyo. Whenever a member of the

family experiences fever, severe headache and the likes, they would consult

the quack doctor and they would be informed that a family member had

been played by a bad spirit. Mrs. Sanita believes in talado.

In the patients father side, no known hereditary diseases run in their

family. The patients grandfather, Mr. Manayon claimed that he had never

been hospitalized. He assumes that he has hypertension because he

experiences nape pain and headache some times. However, he has not been

diagnosed of hypertension. He started taking in centrum multivitamins when

he was 40 years old and still continues as of the moment. He takes in 1

tablet once a day in the morning. Mrs. Sanita, the patients grandmother

claims that she has arthritis. She frequently experiences pain in her knees

and back when she stands for a couple of hours and even minutes. She

manages this by taking periods of rest, remains seated and temporarily

stops her activities/work. She does not take any medication to relieve the

pain. Like her husband, she also sometimes experiences nape pain and

headache. She also claims that she has hypertension. Mr. Manayon and Mrs.

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Sanita have 3 children: 2 males namely Eddison & Reynante and 1 female,

Ms. Mary Anne. According to Mrs. Sanita, their 3 children had never been

hospitalized except for their youngest Mr. Reynante, the father of the

patient. He was once rushed to Gov. Roque Ablan Memoral Hospital on 2002

because of vehicular accident. While he was driving his tricycle going home

from Laoag, he lost his control and fell. He had wound all over his face and

lower extremities. He stayed at the said institution for 1 week and was given

various medications but Mrs. Sanita could not remember those.

Mrs. Sanita claimed that she and her husband were not vaccinated

since some vaccinations were not yet available during their times. But she

claimed that their children received some of the vaccinations rendered by

the RHU but cannot recall any of these.

On the other hand, the patients mother side is believed to have

hereditary diseases. Only little information was gathered because the

patients mother is no longer living with the patient. Mr. Robert, the patients

grandfather died because of leukemia. When asked about when and how he

had the said disease, no information was gathered because Mr. Sanita only

knows little of his sons ex-wifes family history. Mrs. Isabel, the grandmother

is believed to have Hemophilia. According to Mrs. Sanita, when her abalayan

visited Ilocos in the year 2001, she noticed that Mrs. Isabel prefers to remain

seated because she easily gets tired when walking and she frequently

experienced having hematomas over her body. Mr. Robert and Mrs. Isabel

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have 5 children: 4 females and 1 male. Mrs. Lerma, the eldest child and the

mother of the patient is thought to have haemophilia because she also

experiences easy fatigability and hematomas over her body. She was also

informed by Dr. Rosario, the physician at RMH that she should not get

pregnant and bear a child because there is a great chance that the child

would also have haemophilia. The sibling next to her, died at the age of 4

because of hematomas characterized as multiple in quantity, purplish and

are big in quality. Mrs. Sanita is not sure if the 3 remaining children of the

couple have Hemophilia as well but she claimed that the children bore by

them died when they were still young.

Mr. Reynante and Mrs. Lerma have 2 male children namely John and

Christian. Christian, the younger of the 2 died last April 20, 2012 at the age

of 9. He was stumbled and his head was the primary part of his body that

was involved. He was rushed to MMMH & MC and certain procedures had

been performed but he died the same day he was admitted. According to

Mrs. Sanita, her younger grandson probably had hemophilia as well because

she noticed the same manifestations John experiences.

The family usually eats 3 times a day: for breakfast, anytime of the day

from 6-8 am; for their lunch, 11-12 NN and for their dinner, at most 7 pm.

The family eats a variety of foods every day including meat products, fish,

canned goods, processed foods and vegetables. The family usually has

snacks in the morning and one in the afternoon. They usually eat biscuits

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and fruit juices provided by Mr. Mary Anne, if not, they buy at the nearby

store. Sometimes, they also drink soft drinks. . When asked about their food

preferences, Mrs. Sanita said that they are not choosy when it comes to food.

Fried, broiled, boiled, sauted, scrambled are the ways they want their food

to be prepared. They eat vegetables, may it be raw or not. According to her,

the family members are allergy-free to anything, may it be food or not.

The family takes a bath every day and brushes their teeth at least

once a day. They use any brand of shampoo, soap and tooth paste

depending on what is available at the store near their house. They watch

television as their form of recreation at noon and night time. The family

usually sleeps between 8:00-9:00 pm and wakes up between 6:00-7:00 am

during school days and weekends.

PAST HEALTH HISTORY

The patient had experienced common illnesses. When he was 8 years

old, he experienced having chicken pox, which was manifested by itchiness,

small blisters over his body and was minimal in quantity. It was also

accompanied with low-grade fever. Because of these, his grandmother didnt

allow him to attend his classes and just stayed inside their house for the

entire course of the illness. He was not permitted to go to school unless all

the blisters were dried and gone and his temperature subsided. It lasted for

6 days. Mrs. Sanita made him an arabu-uban of onion peelings every

afternoon For his fever, it was managed by increasing his fluid intake, tepid

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sponge bath and an over the counter drug: Paracetamol 1 tsp., 3 x a day for

2 days. These interventions were thought to be effective as per verbalized by

his grandmother, Wen epektibo, anak ko. Malpas duwa nga aldaw ket

nagawan met tay gurigur nan. At the age of 9, he had measles and it was

characterized by small red dots on his skin surface which was managed by

staying inside the house. Also, his grandmother prepared and made an

arabu-ubanof onion peelings3 times a day to dry the rashes. On the 3rd

day, the rashes subsided and peeling of his involved skin areas took place.

After a day of having measles, he had a low-grade fever which lasted for 3

days. Like what his grandmother usually does when he experiences fever, it

was managed with paracetamol (1 tsp., 3 x a day for 3 days) which was

bought over the counter and tepid sponge bath.

The patient experienced having fever, accompanied by cough and

colds for couple of times in his entire life. For the 1st

day, his grandmother

would just increase his fluid intake and let him rest. When these

interventions were already done and performed and the fever still persists,

his grandmother usually sends him to a health care unit in their place for a

check-up. Certain medications had been prescribed to our patient like

Paracetamol 1tsp., taken 3 times a day. According to his grandmother, she

accompanies the prescribed drug as her intervention with increasing fluid

intake, bed rest and TSB.

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As claimed by his grandmother, the patient received a complete

immunization however his yellow card was not presented because it was

kept by the patients mother.

PRESENT HEALTH HISTORY

When the patient was 9 months old, he experienced having

hematomas in his chest and were later seen in other parts of his body with

varying sizes were first observed as per verbalized by his grandmother,

Nagpantal-pantal idi. Diay barukong na ti imuna. Tapos nu ana ti matiltil

nga part ti bagi na, isu ti agpantal. Agawan, agadda. The hematomas were

characterized as bluish-purplish and appeared intermittently. His

grandmother brought him to a quack doctor and they were informed that the

occurrence of his hematomas was caused by the pinching of a ghost. The

quack doctor advised his grandmother to make a coconut oil and apply it all

over the patients affected body parts. The oil was applied into the patients

body twice a day, one in the morning and one before bed time for a period of

7 days. The intervention proposed by the quack doctor was not effective as

claimed by the grandmother because the hematomas did not disappear

completely. Hence, the grandmother went to RHU Vintar to seek for

consultation. Dr. Heidee Albano, the physician of the said health care unit,

prescribed vitamins for the patient. The grandmother bought ceilin vitamins

and started administering the vitamins to his grandson 1 tsp., once a day in

the morning.

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After 3 months of intermittent hematomas, the grandmother decided

to bring the patient (1y/o) to a private pediatrician at Laoag named Dr.

Crosses. The patient was examined but due to lack of sophisticated medical

equipment (laboratory machines) in Ilocos, the patient was referred to

Ramon Magsaysay Hospital in Manila by the doctor. On the following day, the

patient together with his mother and grandmother went to RMH, Manila. Dr.

Rosario, a physician at RMH, instructed them to have the laboratory test at

National Kidney Institute. After the patient had undergone the laboratory test

and was examined, they went back to RMH for the reading of the result. On

January 2003, Dr. Rosario diagnosed the patient to have Hemophilia A. They

were instructed to protect the child from injury; to provide the child with any

food but not those which are hard and are difficult to chew and that the

patient must use soft toothbrush. They were also instructed that the patient

cannot undergo circumcision. The patients mother was also advised not to

get pregnant anymore because of the possibility that their next child will also

have Hemophilia. After they had been to RMH, they went back to Dr. Crosses

Clinic to present the laboratory result and other medical results to her and

were advised to continue administering vitamins to the patient.

According to the grandmother, the patient started crawling when he

was about 1 year old. He experienced having hematoma particularly in his

knees. Like before, the hematomas were characterized as red purplish and

were intermittent but they did not bring him to any health care facility. The

patient began walking independently at the age of 1 year and 4 months.

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The patient started using pacifier when he was 6 months old but when

he was 1 year and 6 months old, he experienced bleeding in the anterior

surface of his tongue because of his pacifier. He was not rushed to the

hospital immediately because his grandparents believed that the bleeding

would stop eventually. After 2 days of minimal bleeding, only then that his

grandmother sent him to Gov. Roque Ablan Memorial Hospital and was

misdiagnosed of pneumonia because our patient spat sputum with blood.

When the grandmother informed Dr. Jimenez, the physician of the child, that

our patient has hemophilia A, she was shocked and modified the diagnosis.

Dr. Jimenez instructed the grandmother to apply his grandsons tongue with

oral gel for 3 days. But even with the application of the oral gel, the bleeding

did not stop completely so, they referred their grandson to Mariano Marcos

Memorial Hospital & Medical Center for further interventions. On the first day

of his confinement, he underwent CBC and Dr. Gapuzan, his physician,

ordered him blood transfusion (50 U, platelet). Upon waiting for the ordered

blood, he was instructed to have ice chips in his mouth to prevent severe

bleeding. They had waited for 16 hours. He was confined at the hospital for 5

days. During the discharge, the grandmother was recommended to give

propan vitamins, 1 tsp. 1 x a day to the patient.

According to the grandmother, when the patient was 2 years old, he

experienced having fever and colds. In addition, melena was noted as

verbalized by the grandmother, idi aggurigor ken aguyek, nu tumakki ket

nangisit, kasla dara.

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During the 2005 New Year celebration in the morning, an incident

had happened. When the patient was walking nearby their house, he

accidentally stumbled while his torototwas on his mouth. He had reddish

purplish hematomas in his lower extremities and had severe bleeding in his

mouth because he hit his torotot. His grandmother sent him to MMMH & MC

immediately. He had undergone CBC and was ordered with cryoprecipitate

(BT: platelet, 6 U). He stayed at the said hospital for 3 4 days.

After 3 months, he was again rushed to MMMH & MC because of gum

bleeding. According to the grandmother, she always reminds his grandson

not to eat anything that is hard and difficult to chew because it may injure

his gums or even his tongue but one time, when the patients playmates

climbed and brought him guava from their neighbor, the patient asked for

one and ate it and he accidentally injured his gums and he bled. He was not

immediately sent to the hospital because his grandparents thought that the

bleeding would stop. Upon waking in the morning, his grandparents saw that

our patients pillow was already soaked with blood so, they brought him to

MMMH & MC and underwent CBC again and transfused with platelet, 5 U. He

was confined at the hospital for 4 days.

When he was 3 year olds, he was fond of playing outside their house.

He spent his time playing with his neighbors, running around their place,

playing hide and seek and etc. But one day, on the 29th day of May 2005,

according to his grandmother, he complained of pain in his lower

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extremities. His ankles were swelling. He felt weak after playing. He did not

walk for 1 week and 3 days. He remained to be dependent on his

grandparents. He let his grandparents give him everything he wanted. They

did not consult any health care facility. They just assured the patient to rest.

On the 3rd day of May 2006, while the patient was playing inside their

house, he accidently stumbled and his nose hit the edge of their chair. He

had bleeding but he was not rushed to a health care facility. His

grandparents just waited until the bleeding stopped. On the 3rd day of the

accident (bleeding, in minimal amount, was still present), the grandparents

noticed that their grandsons nose puffed out and was inflamed but still they

did not send him to the hospital. The patient had difficulty of breathing for 3

days and his left nose was obstructed because of blood clots as verbalized

by the grandmother, nangisit nga dara. Only this time that the patients

grandparents were alarmed of the worsening condition of the patient: The

grandparents brought the patient to MMMH & MC for consultation. Like his

previous managements, he again underwent CBC and Dr. Opilas ordered

cryoprecipitate (BT: platelet, 5 U). He stayed at the hospital for 3 4 days.

After an almost a week in the hospital, he then regained enough strength

and felt better so on the following month he was sent by his grandmother to

attend pre-school.

On August 25 of the year 2007, the patient had ear bleeding. The

grandmother said that the patient complained of itchiness in his both ears

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and so she gave him soft cotton buds. As he was cleaning and relieving the

itchiness of his ear, he accidentally injured his right ear which caused him to

bleed again. His grandmother placed cotton to wipe and clean his injured

ear. But since the bleeding did not completely stop, they brought him to

MMMH & MC for further assessment. He had blood transfusion as ordered by

Dr. Opilas (platelet, 4 U) and was prescribed with Agua Oxinada, 3 drops, 3

times a day for 7 days. He was confined for 3 4 days and was advised to

have a follow-up check up on the 23rd of October, the same year. His

grandmother claimed that on that day, the patient was okay.

On November 17, 2007 our patient was again rushed to MMMH & MC

because of gum bleeding. According to his grandmother, our patient asked

for cornickfrom her but she refused to because she knew that it would cause

him bleeding again. But because he went into temper tantrums, she bought

A case on Hemophilia -A

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