hematology and oncology
Hemophilia
Introduction
Hemophilias are common hereditary bleeding disorders caused by deficiencies of either clotting factor VIII or IX. The extent of factor deficiency determines the probability and severity of bleeding. Bleeding into deep tissues or joints usually develops within hours of trauma. The diagnosis is suspected in a patient with an elevated partial thromboplastin time and normal prothrombin time and platelet count; it is confirmed by specific factor assays. Treatment includes replacement of the deficient factor if acute bleeding is suspected, confirmed, or likely to develop (eg, before surgery). (See also Overview of Coagulation Disorders .) deficiency) have identical clinical manifestations and screening test abnormalities. Both are Single-Gene Defects genetic disorders. Specific factor assays are required to distinguish the two. 