Thanks to our friends at the Hemophilia Foundation of Nevada for this information.

What is Hemophilia?

Hemophilia is an inherited bleeding disorder caused by a deficiency or defect of one of the proteins necessary for blood to properly clot.  These proteins are known as clotting factors.  The type and severity of a person's hemophilia depends on which protein is involved and to what degree they are deficient.  The most common forms are Hemophilia A (classic hemophilia) which is a deficiency of Factor VIII and Hemophilia B (Christmas Disease) which is a deficiency of Factor IX.

People with hemophilia do not bleed faster than others: they bleed longer because their blood does not clot properly.  Symptoms include bleeding into joints and muscles which over a period of time can lead to chronic pain, arthritis, deformity and disability.  In addition, bleeding occasionally occurs in the brain and other vital organs which can be life threatening.

Hemophilia affects mostly males and occurs in 1 in every 5000 male births.  The severity of a person's hemophilia is based upon their baseline factor level.  People with severe hemophilia have a level below 1%, moderate hemophilia is 1-5%, and mild hemophilia is 6-30%.  The normal level for factor VIII or IX is above 50%.  Female carriers of the hemophilia gene may also exhibit abnormal bleeding.  This occurs when their own factor VIII or IX level is below normal.

Treatment

Treatment is aimed at replacing the deficient clotting factor.  This is done via infusions of concentrates containing the needed factor.  Many patients are on a home infusion program whereby they self-infuse the clotting factor concentrate when they bleed or prophylactically to prevent bleeding.  This ensures prompt treatment, and gives them greater independence.

The costs of treating severe hemophilia are high, sometimes $60,000 to $100,000 per year or more.  Prevention, early recognition, and prompt treatment of bleeds can help keep these costs down as well as improve overall quality of life.