Hemophilia.doc

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Hemophilia

Hemophilia is a rare hereditary (inherited) bleeding disorder in which blood cannot clot normally

at the site of a wound or injury. The disorder occurs because certain blood clotting factors aremissing or do not work properly. This can cause extended bleeding from a cut or wound.

Spontaneous internal bleeding can occur as well, especially in the joints and muscles.

Hemophilia affects males much more often than females.There are two types of inherited hemophilia

Type A, the most common type, is caused by a deficiency of factor !""", one of the

proteins that helps blood to form clots.

Type Bhemophilia is caused by a deficiency of factor "#.

$lthough hemophilia is usually diagnosed at birth, the disorder can also be ac%uired later in life

if the body begins to produce antibodies that attack and destroy clotting factors. Howe&er, the

noninherited or ac%uired type of hemophilia is &ery rare.

What causes hemophilia?

The genes that regulate production of factors !""" and "# are found on the # chromosome only.

Hemophilia is caused by an abnormal gene on the # chromosome. "f a woman carries the

abnormal gene on one of her chromosomes (females ha&e a pair of # chromosomes), she will notha&e hemophilia herself, but she will be a carrier of the disorder. That means that she can pass

the gene for hemophilia on to her children. There is a ' chance that any of her sons will

inherit the gene and will be born with hemophilia. There is also a ' chance that any of herdaughters will be carriers of the gene, without ha&ing hemophilia themsel&es.

"t is &ery rare for a girl to be born with hemophilia, but it can happen if the father has hemophilia

andthe mother carries the gene for hemophilia. Their daughter will then ha&e the abnormal geneon both of her # chromosomes.

"n about * of all cases of hemophilia, the disorder is caused by a spontaneous gene mutation.

How common is hemophilia?

Hemophilia is an extremely rare disorder about +, people in the -.S. ha&e been diagnosed.

Some babies in the -nited States are born with hemophilia e&ery year. $bout / out of +hemophiliacs ha&e type $ hemophilia. $round 0 to 1 of people with hemophilia ha&e the

se&ere form of the disorder, about +' ha&e the moderate form, and the rest ha&e mildhemophilia. Hemophilia can occur in all races and ethnic groups.

What are the symptoms of hemophilia?

2rolonged external bleeding, and bruising that occurs easily or for no apparent reason, are twomajor symptoms of hemophilia.

The symptoms of hemophilia &ary depending on whether the person has the mild, moderate, or

se&ere form of the disorder. 3or people with se&ere hemophilia, bleeding episodes occur moreoften and with little pro&ocation. Sometimes, bleeding begins for no apparent reason. 3or those

with moderate hemophilia, prolonged bleeding tends to occur after a more significant injury.

2eople with the mild form of hemophilia might ha&e unusual bleeding only after a major injury,surgery, or trauma.

2eople with hemophilia may also ha&e internal bleeding (inside the body), especially in the

muscles and joints, such as the elbows, knees, hips, shoulders, and ankles. 4ften there is no pain

at first, but if it continues, the joint may become hot to the touch, swollen, and painful to mo&e.5ontinued bleeding into the joints and muscles can cause permanent damage, such as joint

deformity and reduced mobility (ability to get around).


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6leeding in the brain is a &ery serious problem for those with se&ere hemophilia, and may be

life7threatening. Signs of bleeding in the brain may include changes in beha&ior, excessi&e

sleepiness, persistent headaches and neck pain, double &ision, &omiting, and con&ulsions orsei8ures.

How is hemophilia diagnosed?

$ doctor will perform a physical examination to rule out other conditions. "f you ha&e symptomsof hemophilia, the doctor will obtain information about your family9s medical history, since this

disorder tends to run in families.

6lood tests are then performed to determine how much factor !""" or factor "# is present in yourblood. These tests will show which type of hemophilia you ha&e, and whether it is mild,

moderate, or se&ere, depending on the le&el of clotting factors in the blood

2eople who ha&e '7: of the normal amount of clotting factors in their blood ha&e mild

hemophilia.

2eople with +7' of the normal le&el of clotting factors ha&e moderate hemophilia.

2eople with less than + of the normal clotting factors ha&e se&ere hemophilia

How is hemophilia treated?

The treatment will depend on the type and se&erity of the disorder. The treatment is usuallyreplacement therapy, in which concentrates of the clotting factors !""" or "# are gi&en as needed

to replace the blood clotting factors that are missing or deficient. These blood factor concentrates

can be made from donated human blood that has been treated and screened to reduce the risk oftransmitting infectious diseases, such as hepatitis and H"!. ;ecombinant clotting factors, which

are not made from human blood, are also a&ailable to further reduce the risk of infectious

disease.


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Hemophilia disease is a kind of genetic blood disorders due to malfunction of bloodclotting factors or genetic mutation. As the clotting doesn't take place properly, it oftenresults into anemia and death. Also known as royal disease, this is linked with xchromosomes.What is Hemophilia?

Hemophilia is a rare blood disorder that is linked to the X-Chromosome and in somecases is due to a genetic mutation. he X and ! chromosomes are the genetic materialthat determines the gender of the child. "omen ha#e two X chromosomes and menha#e a set of X! Chromosomes. herefore women are only carriers of hemophilia andpass it on to their sons. hus this $royal disease$ is passed from mother to son. %iftypercent of the children of a couple where a woman is a carrier and a man is not afflicted

with the disease will either get the disease &sons or become carriers of the disease&disease. (n the case where the man is afflicted with the disease, the girls will becarriers, but his sons will not get the disease. his is because the disease itself ispassed from the mother, through her X chromosome.

here are two types of hemophilia, A and ). Hemophilia A &also called factor *(((deficiency and classic hemophilia is the more common of the two. his is a diseasethat is caused by a lack of a certain protein that is necessary for production of a ma+orcomponent in the clotting process known as factor *(((. "ith this disease smaller cuts orbruising are not a problem. hough ma+or problems are caused by traumatic in+uriesthat lead to neither faster, nor harder uality of bleeding, but bleeding that will not stop.

Hemophilia ), also known as $Christmas disease$ &named after the first persondiagnosed with it in /0 or factor (X deficiency, is caused by a deficiency in a differentblood clotting factor and is less pre#alent than the factor *((( #ersion. his #ersionappearing in in 0/,111 male births as opposed to the factor *((( #ersion that appearsin one in /,111 male births. he genetic appearances of this factor deficiency are thesame as that with factor *(((.

Symptoms

here are degrees of both hemophilia A and ), they are as follows2

Mild hemophilia (factor levels of 6%-49%)3 hese patients only suffer significantbleeding after ma+or in+ury or other causes of bleeding such as trauma or surgery. 4ftenthis degree of hemophilia will not be found until an in+ury causes excessi#e bleeding&sometimes not e#en until adulthood.

Moderate hemophilia3 Around /5 of the people with this disease- these patients ha#ewhat is known as $spontaneous bleeding episodes$, times when they bleed for noknown cause.

Severe hemophilia3 Around 615 of those with it bleeds spontaneously freuently,usually into the +oints and muscles, these people also bleed after an in+ury.


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Treatment

(n America there are speciali7ed treatment centers &called HC's that ha#e specialiststhat co#er a multitude of concerns that would be able to assist people with this and

other blood disorders. 8ome of these areas are social workers, hematologists &bothadult and pediatric, dentists, gynecologists and se#eral others.

%or those with mild hemophilia, small cuts and scrapes are treated as usual andadditionally a non-blood product is added &99A*: for treating minor bleedingincidents. reating ma+or bleeding incidents or bleeding into the +oints and muscles aretreated by gi#ing the patient the missing factor &*((( or (X. his is the only way to sol#ethese problems as they arise.

%or ma+or bleeding in+uries, he ;edical and 8cientific Ad#isory Council of the et us see some more facts about this disorder.

The blood sample of a hemophilic person shows lack or complete absence of a group of

proteins called clotting factors. There are &arious types of clotting factors, which in

association with blood platelets, are responsible for normal blood coagulation or clotting.

?hen a blood &essel is injured, the clotting factors and platelets work together to stop

bleeding. The o&erall signs and symptoms of hemophilia may differ based on the clotting

factor and also the site of injury or bleeding.

"t is mostly manifested in males, which is due to its genetic cause. This bleeding disease

results due to a disorder in the # chromosome. "n females, there are two # chromosomes,

meaning that they ha&e a backup # chromosome, e&en if one is affected. There is only

one # chromosome in males= if the # chromosome contains the infected gene responsiblefor causing hemophilia, then the person is hemophilic.

3emales are usually the carriers of hemophilia, which may be passed either from the

mother or the father.

3emale carriers may show mild symptoms of bleeding.

There are many such diseases in the world that are not caused by an external factor 7 like bacteria

or &iruses. "nstead, these conditions are caused by genetic factors that are present in the body

right from birth. These diseases are referred to as hereditary genetic diseases. 4ne such disease


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that comes under the spectrum of hereditary genetic diseases is hemophilia 7 a condition wherein

the body@s clotting or coagulation mechanism is impaired as a result of which bleeding does not

stop after the stipulated period when there is an injury and a blood &essel is broken.

Causes of Hemophilia

?hen we wish to discuss the causes of this recessi&e genetic disorder, it will entail both 7 exactly

what causes the symptoms of this condition and how this condition is passed on from one

indi&idual to another as hemophilia causes and symptoms are interrelated.

Pathogenesis of Hemophilia

There exist three different types of hemophilia, classified on the basis of the kind of clotting

factor that is missing. They are Hemophilia $ or classic hemophilia $t percent, this is the most common hemophilia

type which is caused as a result of clotting factor !""" deficiency.

Hemophilia 6 "f Hemophilia $ constitutes percent of the cases, Hemophilia 6 7

caused by factor "# deficiency, constitutes nearly * percent of the cases. Hemophilia 5 This is the rarest of all three and is caused due to deficiency of clotting

factor #". This is usually the mildest of all three.

"n short, hemophilia is caused due to a missing clotting factor which is re%uired for the normalcoagulation process to be completed. ?hen a blood &essel is broken, in case of a hemophilic, a

small scab does form, but the fibrin formation 7 which leads to the hardening and closure of the

wound, doesn@t occur.


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