Hemophilia A
The most common congenital coagulation factor deficiency is caused by reduction in the amount or activity of factor VIII. It is X linked recessive so it is only found in males while females are only asymptomatic carriers. Hemophilia B (Christmas disease) is caused by factor IX deficiency. Classification: 1. Severe = less than 1% of normal factor VIII deficiency 2. Moderate = 2-5% of normal factor VIII activity. 3. Mild = 6-50% of normal factor VIII activity. Certain clinical findings are seen suh as spontaneous hemorrages (eg: gastrointestinal), hemarthrosis i.e. bleeding in joints, muscle hematomas especially in calf and psoas muscles. Petechia are classically absent. Lab findings are increased PTT while normal PT and platelets count. Mild cases are managed through Desmopressin while severe cases require recombinant factor VIII therapy. Image from mdedge.com
