Hemophilia

Overview

Inherited bleeding disorder caused by factor VIII deficiency (Hemophilia A) or factor IX deficiency (Hemophilia B), affecting ~10,000 people in the UK; characterized by joint bleeds, CNS bleeds, and historically shortened life expectancy; treated by factor replacement, gene therapy, or hemostasis rebalancing. Hemophilia A is caused by factor VIII deficiency and Hemophilia B by factor IX deficiency; approximately 10,000 people in the UK have hemophilia, with B being much less common; both types impair the intrinsic clotting cascade, reducing thrombin generation and causing poor clot formation with excessive bleeding. The most clinically significant bleeds in hemophilia are into joints, which cause pain, limited mobility, and long-term arthritis damage; CNS bleeds are also a serious concern; people of the speaker's generation commonly have limps from sore ankles or have needed joint replacement. (Introduction (00:00-05:00))