Current challenges in the management of hemophilia

Abstract

Hemophilia is characterized by genetic mutations resulting in the deficiency of factors critical to the normal process of coagulation, sometimes resulting in spontaneous bleeding into soft tissue, joints, and internal organs. The 2 most common subtypes are hemophilia A, or factor VIII deficiency, and hemophilia B, or factor IX deficiency. Hemophilia affects an estimated 20,000 individuals in the United States. The diagnosis and management of patients with severe hemophilia is complex, and requires preventive treatment (prophylaxis) to avoid bleeding episodes and related complications and the use of replacement therapy with coagulation factors during acute bleeding episodes. To achieve optimal long-term results, the treatment of patients with hemophilia requires a comprehensive approach coordinated by a multidisciplinary team of specialists. Hemophilia imposes a substantial burden from economic, societal, and patient perspectives.