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HEMOPHILIA

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WHAT IS IT?

It is a disease with a defect in the clotting process. Normally, after the human body faces an injury, platelets along with clotting factor seal the injury site, form a clot and arrest bleeding.In hemophilia, the clotting factor is missing as a result of which the blood fails to clot. So the patient continues to bleed for long leading to devastating sequelae. Hemophilia is of two types, Type A is caused by deficiency of clotting factor VIII while type B is caused by deficiency of clotting factor IX.

WHAT WILL I EXPERIENCE?

You may experience prolonged bleeding episodes, which may occur spontaneously or due to injury or surgery. Any minor injury can cause large bruises. Internal bleeding into the joint spaces may cause pain and joint diseases. Bleeding in the head and neck region can lead to seizures, paralysis and coma.  

WHY ME?

Hemophilia is predominantly genetic (inherited )in origin. It is seen mainly in men as the clotting factor gene is located on X chromosome and having both defective genes is uncommon. Females are usually carriers and can only pass the disease to their sons. Some people may also acquire it later in life in conditions like pregnancy, autoimmune diseases, cancer etc. In these conditions, the body starts attacking its own clotting factors.

HOW TO DETECT IT?

This includes both screening tests as well as clotting factor assays to confirm the type and severity of disease. Screening tests include a CBC (complete blood count), PT (prothrombin time), APTT (Activated partial thromboplastin time) and fibrinogen time. The clinician can order these tests in the first year of life if the disease is severe. Sometimes, the condition goes unnoticed till adulthood and is diagnosed only when one experiences prolonged bleeding after a surgical procedure. Anyone with a family history of hemophilia should get oneself tested to know their carrier status.

CAN IT BE TREATED?

The main treatment is replacing the deficient clotting factor. Other measures include desmopressin, clot preserving medications and fibrin sealants. These drugs help in sealing the injury site and prevent the clot from breaking down. Acute bleeding episodes can be taken care of by ice packs and first aid.

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