Hemophilia is one of a group of inherited bleeding disorders that cause abnormal or exaggerated bleeding and poor blood clotting. People with hemophilia lack or have low levels of one of two blood-clotting substances, known as factor VIII and factor IX. As a result, they may bleed for a long time after an injury.
How well you do depends on the type of hemophilia and its severity. Thanks to the development of clotting factor products, most people with hemophilia can look forward to a near-normal life span.
There are three main complications that may develop in people with hemophilia:
Joint destruction – Multiple episodes of bleeding into joints can result in severe joint damage.
Blood-borne infection – Blood testing and purification techniques have improved markedly over the years. It is now exceedingly rare for hepatitis or HIV infections to be transmitted through blood products.
Development of inhibitor antibodies – People who are treated with clotting factors can develop inhibitor antibodies. These are proteins that decrease the effectiveness of the clotting treatment. When this occurs, treatment can become complicated and expensive.
Hemophilia cannot be cured, however, patients who start prophylaxis early (by age 3) show a better muscuoloskeletal outcome and fewer joint bleeds. People with hemophilia should take the following precautions:
Call your doctor if you notice unexplained or severe bruises or a warm, painful joint on your child's body. If you are an adult and you experience these symptoms, call your doctor.
Professionals trained in both hematology and blood coagulation disorders are best equipped to diagnose and treat hemophilia. People with bleeding disorders should consult with these specialists.
Multiple trials and studies are underway to examine the possibility to use gene therapy to replace the defective genes in hemophilia. To date, stable and sustained production of the deficient clotting factors has not been achieved in humans, but this is an area of active investigation that holds great promise for the future.
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