hæmofilifaktor

Hæmofilifaktor, more commonly known as Factor VIII, is a protein produced by the liver that plays a crucial role in blood clotting. Specifically, it is a cofactor for Factor IX, accelerating the conversion of prothrombin to thrombin, which is essential for fibrin formation and clot stabilization.

A deficiency in hæmofilifaktor leads to hemophilia A, the most common form of hemophilia. In individuals with hemophilia A, the blood does not clot properly, leading to prolonged bleeding after injuries or surgery, and spontaneous bleeding into joints and muscles. The severity of hemophilia A depends on the level of functional hæmofilifaktor in the blood.

Hæmofilifaktor is synthesized as a large precursor molecule and circulates in the plasma bound to von Willebrand factor. This binding protects Factor VIII from premature degradation and facilitates its transport. The gene for hæmofilifaktor is located on the X chromosome, which is why hemophilia A predominantly affects males. Females can be carriers and rarely develop symptoms if they have skewed X-chromosome inactivation.

Treatment for hemophilia A involves replacing the missing or deficient hæmofilifaktor through infusions of clotting factor concentrates. These concentrates can be derived from donated plasma or produced recombinantly. Gene therapy is also an emerging treatment option that aims to provide a long-term solution by introducing a functional copy of the hæmofilifaktor gene into the patient's cells.