Hemophilia is a hereditary bleeding disorder characterized by an underlying defect in the ability to generate adequate levels of thrombin needed for effective clotting, thereby resulting in recurrent bleeds into joints, muscles, and major internal organs. There are approximately 200,000 persons diagnosed worldwide with hemophilia A and hemophilia B.
Standard treatment for people with hemophilia currently involves replacement of the deficient clotting factor either as prophylaxis or “on-demand” therapy, which can lead to a temporary restoration of thrombin generation capacity. However, as many as one third of people with severe hemophilia A will develop a neutralizing antibody to their replacement factor – a very serious complication; individuals with these ‘inhibitors’ become refractory to standard replacement factor therapy.
1. N. Danziger. Neurologie. Med-Line Editions, 2011, p.107