Thesis (M.Sc.) - Cairo University - Faculty Of Medicine - Department Of Clinical and Chemical Pathology

The coagulation system is an essential haemostatic mechanism to prevent excessive bleeding and to enable wound healing after traumaThus an active coagulation system is neededHowever , it is important that coagulation is carefully balanced to avoid bleeding as well as thrombosis (Sere and Hacking 2003) and (lobez et al , 2005) Today arterial thrombosis and its clinical manifestations such as myocardial infarction , stroke , peripheral arterial disease and venous thrombo - embolism with its clinical manifestations such as pulmonary embolism and deep venous thrombosis of the lower limbs are major causes of morbidity and mortality (Lane and grant 2000) The reactions of blood coagulation are carefully controlled by several anticoagulant mechanisms and under normal conditions they prevail over the procoagulant forcesGenetic or acquired disturbances of the natural balance between the pro - and anticoagulant systems may result in bleeding or thrombotic diseases (Dahlback , 2005) Most alterations in a gene sequence are detrimental to the function of that gene and lead to loss of functionHowever , mutations can also lead to gain of functionBoth types of mutations play an important role in diseases of blood coagulation and fibrinolysis (Reitsma et al , 2001

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