Identification of Mutations in the Human Factor VII Gene

It has been recognized from the early 1800s that activation of coagulation can be initiated by the exposure of subendothelial layers (tissue factor), but it was the 1940s before factor VII (FVII) was included in this event (1,2). The discovery of hemophilia A and B supported the hypothesis that the intrinsic pathway incorporating factors VIII and IX was more important in hemostasis (3,4). More recently the extrinsic pathway (incorporating FVII) has been the focus of attention by activating both arms of the coagulation cascade via its action upon factors IX and X (5).