HEMOPHILIA

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Dr. Ira Shah
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What is hemophilia?
Hemophilia is an inherited disorder in which there is inability to form an effective clot and hence causes prolonged bleeding in a patient. It is seen exclusively in males. A person with hemophilia does not bleed faster, only longer.

How common is hemophilia?
A: Hemophilia affects approximately 1 in 5,000 live male births.

How is hemophilia inherited ?
A: There are two types of hemophilia - Hemophilia A and Hemophilia B. Hemophilia A results from deficiency or abnormality of clotting factor in the blood called as "factor VIII".
Hemophilia B results from deficiency or abnormality of another clotting factor called as "factor IX". Females are usually carriers (i.e. they have the abnormal gene that causes hemophilia but do not have clinical manifestations). The male children usually manifest the disease. Sometimes hemophilia occurs due to a fresh mutation in the gene sequence in the child.

The following permutations-combinations can occur while inheriting hemophilia :-

1. Normal Mother + Father with hemophilia.
During each pregnancy, the female offspring has 100% chance of being a carrier and the male offspring is always normal. Hence, sons of hemophiliac fathers and normal mothers are normal.

2. Carrier Mother + Normal Father
During each pregnancy, there is 25% chance of a normal female, 25% chance of a carrier female, 25% chance of a normal male and 25% chance of an affected male.

3. Carrier Mother + Father with hemophilia
Each pregnancy has 25% chance of a female carrier, 25% chance a female with hemophilia, 25% chance of a normal male and 25% chance of an affected male.

4. Mother with hemophilia + Father with hemophilia
During each pregnancy there is 50% chance of an affected female and a 50% chance of an affected male (actual occurrence is rare).

5. Mother with Hemophilia + Normal Father
During each pregnancy there is 50% chance of a carrier female and a 50% chance of an affected male though the actual occurrence is rare.

What are the problems in a hemophilia child ?
A: Hemophilia are divided into severe, moderate and mild diseases depending on the level of functional factor VIII or factor IX. (normal levels are between 50% and 150%). Mild hemophilia patients (factor levels>5% and <50%) bleed only after injury, invasive procedure or surgery. Carriers of hemophilia are also sometimes found to have factor levels in the Mild range. Moderate hemophiliacs (factor levels - 2 to 5%) experience more bleeds, about once a month, usually after trauma, surgery or extreme exertion. They usually bleed in the muscles and joints. Once a bleeding occurs in a particular area, these patients may continue to have bleeding episodes in those areas. Severe hemophiliacs (factor level<1%) bleed spontaneously usually in joints, muscles and soft tissues.
Joint and muscle bleeding may cause pain, tingling, heat, swelling, limited range of motion etc. It commonly occurs in the ankles, elbows and knees but can also affect any joint in the body.

How is hemophilia diagnosed ?
Blood tests help in diagnosing the disease. By determining the factor levels in the blood the diagnosis can be confirmed.

How is hemophilia treated ?
Replacement of the deficient factor in the blood is the mainstay of the therapy. There are various factor concentrates available. These factors can be given according to various treatment regimes:

1. Demand therapy :- Infusion of a factor at the time of a bleed.
2. Preventive therapy :- Instead of receiving the factor on demand, the patient receives infusions at regular intervals to maintain a functional level of factor in the blood at all times.
3. Continuous infusion :- It is usually given before or after elective surgery or after major trauma.

What are other general measures to be taken care of in hemophilia ?
A: Newborns with hemophilia rarely bleeding. Delivery by vacuum extraction is contra-indicated. If fetus is large or if labor is difficult, caesarian section should be considered. Newborns with hemophilia should not be circumcised. Routine intramuscular injections may be given. Immunization against Hepatitis A and B is also advisable.
For babies with hemophilia, the home environment should protected. The floor should be carpeted. Trouser and long sleeved shirts should be padded internally at the levels of the knees and elbows to protect from falls and bumps.
For children, contact sports should be avoided. Good dental care should be advised. Physical exercise is advised as strong muscles support joints and may prevent profuse bleeding.

How are the joints protected in hemophiliacs?
A: In hemophiliacs, joint bleeding and re-bleeding is common. With repeated hemorrhages, chronic joint damage may occur causing rebleeding. Thus, a vicious cycle is created. Joint cartilage is gradually destroyed and bone is reabsorbed causing degenerative arthritis. Joint bleeding during growing years may cause different lengths of the two limbs. Hence, prevention of joint bleeding and early treatment of joint bleeds is advocated to maintain the full mobility of the joint.

What are other therapies available for hemophilia?
A: Gene therapy for hemophilia A and B is being tried in animal studies.

How can Hemophilia be detected in the unborn child within the womb?
A: Invasive tests done at 8 weeks or 12-14 weeks can be used for prenatal diagnosis by DNA analysis if the mother's carrier state is known. These tests remove a part of the amniotic fluid (little water from the water sac in which the baby is growing in the womb) or other cells from the placenta. If DNA analysis is not available, fetal blood (blood from the unborn baby's vein) can be aspirated at 18-20 weeks gestation to determine the factor levels in the fetus.

What is the prognosis of a child with hemophilia?
A: Children with mild hemophilia can lead a normal life. With the advent of factor therapy, children with moderate and severe hemophilia, if treated early can lead a near normal life.



Contributor Information and Disclosures Dr. Ira Shah
Consultant Pediatrician, B.J.Wadia Hospital for Children, Mumbai, India


First Created : 12/20/2000
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