Hemophilia

A hereditary bleeding disorder, hemophilia results from deficiency of specific clotting factors. Hemophilia A (classic hemophilia). which affects more than 80% of all hemophiliacs, results from deficiency of factor VIII; hemophilia B (Christmas disease), which affects 15% of hemophiliacs, results from deficiency of factor IX. Other evidence suggests that hemophilia may result from nonfunctioning factors VIII and IX, rather than from deficiency of these factors.

Hemophilia is the most common X-linked genetic disease and occurs in about 1.25 in 10,000 live male births.

The severity and prognosis of bleeding disorders vary with the degree of deficiency and the site of bleeding. The overall prognosis is best in mild hemophilia, which doesn't cause spontaneous bleeding and joint deformities. Advances in treatment have greatly improved the prognosis, and many hemophiliacs live normal life spans.

Causes

Hemophilia A and B are inherited as X-linked recessive traits. Therefore, female carriers have a 50% chance of transmitting the gene to each daughter, who would then be a carrier, and a 50% chance of transmitting the gene to each son, who would be born with hemophilia.

Hemophilia produces abnormal bleeding, which may be mild, moderate, or severe, depending on the degree of factor deficiency. After a person with hemophilia forms a platelet plug at a bleeding site, the lack of clotting factors impairs formation of a stable fibrin clot. Immediate hemorrhage is not prevalent, but delayed bleeding is common.

Signs and Symptoms

If you've just found out you have hemophilia, you probably have a milder form of the disease.

Symptoms of hemophilia include:

• bruises that are unusual in location or number
• nosebleeds that won't stop
• excessive bleeding from biting a lip or having a tooth pulled
• painful or swollen joints
• blood in the urine

Diagnostic tests

In addition to a complete medical history and physical examination, your physician may perform numerous blood tests including clotting factor levels, a complete blood count (CBC), assessment of bleeding times, and/or DNA (deoxyribonucleic acid) testing.

Treatment

Hemophilia is not curable, but treatment can prevent crippling deformities and prolong life. Correct treatment quickly stops bleeding by increasing plasma levels of deficient clotting factors to help prevent disabling deformities that result from repeated bleeding into muscles , joints, and organs.

In hemophilia A, cryoprecipitated antihemophilic factor(AHF), lyophilized AHF, or both given in doses large enough to raise clotting factor levels above 25% of normal can permit normal hemostasis. Before surgery, AHF is administered to raise clotting factors to hemostatic levels. Levels are then kept within a normal range until the wound has healed. Fresh frozen plasma
can also be given but has some drawbacks.

Inhibitors to factor VIII develop after multiple transfusions in 10% to 20% of patients with severe hemophilia renders the patient resistant to factor VIII infusions. Desmopressin may be given to stimulate the release of stored factor VIII, raising the level in the blood.

In hemophilia B, administration of factor IX concentrate during bleeding episodes increases factor IX levels.

A person with hemophilia who undergoes surgery needs careful management by a hematologist with expertise in hemophilia care. The patient requires deficient factor replacement before and after surgery. Such replacement may be necessary even for minor surgery, such as dental extraction. In addition, aminocaproic is commonly used for oral bleeding to inhibit the active fibrinolytic system in oral mucosa.

Prevention

These steps may help you avoid excessive bleeding and protect your joints:

• Exercise regularly.
• Drugs that can aggravate bleeding include aspirin and nonsteroidal anti-inflammatory drugs (Advil, Motrin, others). Instead, use acetaminophen (Tylenol, others), which is a safe alternative for mild pain relief. Also avoid certain blood-thinning medications, such as heparin and warfarin (Coumadin), which prevent blood from clotting.
• Practice good dental hygiene.

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