Hemophilia

 

                                     

 

Disorders of coagulation characterized by ineffective blood clotting.  Normally, blood coagulates (turns from liquid to solid) at the site of damage to a blood vessel to restrict blood loss following injury as the initial step to repairing wounds. In this disease, due to blood factor deficiency, blood does not coagulate efficiently causing excessive bleeding, both internally and externally.  Wounds or injuries bleed into organs, muscles, and joints.  Any organ can be affected by these bleeds.  Blood loss can be significant, even fatal, if left untreated.  A common complication is disability from ankle or knee joint destruction caused by repeated bleeds.  Hemophelia A and B are genetic disorders caused by a defective gene on the x chromosome. 

Hemophelia C occurs in 8% of Ashkenazi Jews.  There is currently no cure for hemophelia.  The treatment focuses on preventing or aggressively treating bleeding.  The mainstay of treatment is frequent injections of replacement clotting factor into the blood stream.