Child with hematological dysfunction

Emad Al Khatib, RN,MSN,CNS

Hemophilia

• There are several X-linked (or sex-linked) recessive genetic disorders, (hemophilia, muscular dystrophy) which are inherited through a genetic defect on an X chromosome. A female has 2 X chromosomes, one she inherited from her mother and one she got from her father.

• A male has an X chromosome from his mother and a Y chromosome from his father. If a woman has the defect on one of her X chromosomes, and the father's X chromosome is normal, there is a 25% chance for each pregnancy to produce: an unaffected girl; a girl who carries the defect; an unaffected boy; or a boy with the disorder.

• Hemophilia is a disease where the blood clots.  The disease is a sex-linked disorder and the genes for hemophilia are found on the X chromosome.  The X chromosome carries the gene for Hemophilia, which is passed to the child.  Women are usually carriers while men are usually the ones diagnosed with the disease. 

Overview, Causes, & Risk Factors

• Hemophilia is a hereditary bleeding disorder of specific blood clotting factors. There are several types of hemophilia, including hemophilia A and B. Hemophilia A is 7 times more common than hemophilia B. Hemophilia B is the result of a deficiency of clotting factor IX.

• The disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. Females carry two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the other can compensate. Males, however, carry only one X chromosome, so if the factor IX gene on that chromosome is defective, they have the disease.

• Females with one defective factor IX gene are carriers of this trait. Fifty percent of the male offspring of female carriers will have the disease, and 50% of their female offspring will be carriers. All female children of a male hemophiliac will be carriers of the trait.

• The severity of symptoms can vary with this disease, and the severe forms become apparent early on.

• Bleeding is the mark of the disease and sometimes, though not always, occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile.

• Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common. Risk factors are a family history of bleeding and being male. Hemophilia B occurs in about 1 out of 32,000 men.

Symptoms & Signs

• Nosebleeds • Bruising • Spontaneous bleeding • Bleeding into joints and associated pain and

swelling • Gastrointestinal tract and urinary tract

hemorrhage • Blood in the urine or stool • Prolonged bleeding from cuts, tooth extraction,

and surgery • Excessive bleeding following circumcision

Prevention

• Genetic counseling may be advised. Female carriers can be identified by testing.

Diagnosis & Tests

• Coagulation studies involving many tests are performed if the person tested is the first one in the family to have a bleeding disorder. Once the defect has been identified, other family members will need less testing to diagnose the disorder.

• PTT is prolonged.

• Prothrombin time is normal.

• Bleeding time is normal.

• Fibrinogen level is normal.

• Serum factor IX is reduced

Treatment

• Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.

• Hepatitis B vaccine is recommended for individuals with Hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.

• To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular prophylactic infusions.

• Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.

Complications

• Chronic joint deformities, caused by recurrent bleeding into the joint, may be managed by an orthopedic specialist.

• Recurrent transfusions may expose the individual to HIV and hepatitis, especially prior to 1985 when blood screening procedures were improved for detecting the HIV virus.

Iron deficiency anemia

• Definition:

• Iron deficiency anemia is a decrease in the number of red blood cells, caused by a lack of sufficient iron.

Causes, incidence, and risk factors

• Iron deficiency anemia is the most common form of anemia .

• Iron is an essential component of hemoglobin , the oxygen-carrying protein in blood.

• Iron is normally obtained in the diet and by the recycling of iron from old red blood cells.

• Babies are born with about 500mg of iron in their bodies. By the time they reach adulthood they need to have accumulated about 5000mg.

• Children need to absorb an average of 1mg per day of iron to keep up with the needs of their growing bodies. Since children only absorb about 10% of the iron they eat, most children need to ingest 8-10mg of iron per day. Breast-fed babies need less, because iron is absorbed 3 times better when it is in breast milk.

• An iron deficient diet is a common cause of iron deficiency. Drinking too much cow's milk is a classic cause of iron deficiency in young children, because cow’s milk does not contain iron and inhibits absorption of iron. Iron deficiency may also result from blood loss in stool from a problem in the intestines.

• An iron deficient diet is a common cause of iron deficiency. Drinking too much cow's milk is a classic cause of iron deficiency in young children, because cow’s milk does not contain iron and inhibits absorption of iron. Iron deficiency may also result from blood loss in stool from a problem in the intestines.