Hereditary thrombophily - an actual problem in modern medicine

Thrombophilia is a condition that predisposes to thrombosis and results from a number of hereditary and acquired abnormalities of hemostatic system. Up to now, the term «hereditary thrombophilia» has been mainly referred to an increased tendency to develop venous thromboembolism. The most recognized genetic factors associated with hereditary thrombophilia include the deficiencies of natural anticoagulants coaqulation factor V (Leiden) and prothrombin G20210A mutations, which affect altogether 5-10% of Caucasian population. Recent data indicate, that prothrombotic changes in hemostatic system could also participate in the pathogenesis of different human pathologies, including obstetric, neurological, renal complications Moreover a great number of novel functional DNA polymorphisms with a potency to attenuate the risk of arterial or/and venous thrombosis has been discovered in the past decade. This reflects the polygenic nature of hereditary thrombophilia and, at least in part, can explain the heterogeneity of clinical manifestations of thrombophilic state. Here, we present the data on the functional significance, possible role in arterial and venous thrombosis development, and prevalence in the healthy population of North-Western region of Russia for the most known to date variations in hemostatic and other genes affecting an individual prothrombotic potential