F8

Coagulation Factor VIII (factor VIII) is an essential blood clotting protein which is encoded for by the F8 gene. Factor VIII protein circulates in the bloodstream in an inactive form until an injury to the circulatory system occurs. At this point it is activated and then proceeds to bind with other coagulation factors to form a blood clot preventing blood loss ¹.

Clinical mutations in this gene are associated with hemophilia, whereby clots do not form correctly and sufferers are at risk of bleeding out, from relatively minor injuries. This severe disorder is usually diagnosed early in life; however, elevated levels of factor VIII are also associated with health issues associated with overactive clot formation such as deep vein thrombosis (DVT) or pulmonary embolisms. These disorders typically occur much later in life and the exact importance of factor VIII is poorly understood ².