Mutations and blood clots: how point mutations in clotting factor genes conspire to increase the risk of thrombosis

After trauma, the formation of a thrombus is essential to stem bleeding. A cascade of proenzymes, enzymes, and cofactors interact with damaged vessel endothelium to converge on a common pathway with the formation of a fibrin clot. The clot acts as a mechanical plug to prevent bleeding and is vital for normal vascular function. Disturbance of this pathway can be deadly; too little clotting results in bleeding disorders such as hemophilia, whereas excessive clotting produces blood clots that can block the lungs.