​Pathology - Hemophilia

​Pathology - Hemophilia
Hemophilia A is a coagulation problem from deficiency in factor VIII, and consequent hemarthrosis of his knee. PTT is prolonged when the intrinsic pathway is damaged; however, in cases of hemarthrosis, PT may also be prolonged as the extrinsic pathway clotting factors are spent in containing a hemorrhage. Hemophilia A is nearly five times more common than hemophilia B (deficiency of factor IX) and is transmitted in an Xlinked recessive manner, however family history may be lacking as 30% of cases are spontaneous mutations. The illnesses are clinically indistinguishable and need testing of serum plasma components. Hemophilia occurs on a range of severity, based on the relative insufficiency of the clotting factor. Less than one percent (<1%) activity is considered serious and results in spontaneous bleeding. Patients with mild hemophilia (5–40% factor activity) bleed heavily at times of trauma and surgery. Those with 1 to less than 5% activity have moderate bleeding episodes. Intracranial hemorrhage is the most common cause of mortality and is commonly spontaneous in moderate and severe illnesses. A typical consequence is joint destruction from recurrent hemarthrosis. In this scenario, an arthrocentesis of the joint would be therapeutic and diagnostic.