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To study the role of genetic determinants of hereditary thrombophilia in pathogenesis of various clinical manifestations of venous thrombosis in the citizens of the North-West Region of Russia.Mutations of the genes of factor V (FV Leiden), prothrombin (G20210-A) and polymorphism C677-T in the gene of methylentetrahydrofolate reductase (MTHFR) were detected using polymerase chain reaction (PCR) with a following restriction analysis of PCR product in 183 patients with venous thrombosis (115 with isolated thrombosis of the deep veins and 68 with thromboembolism of the pulmonary artery).It was established that mutation FV Leiden is a significant risk factor of deep vein thrombosis in the legs and postthrombotic disease, but this mutation is weakly associated with pulmonary artery thromboembolism (PAT). An essential PAT risk factor is carriage of the variant prothrombin G20210A.Determination of prothrombotic genotypes is a key factor of treatment efficacy and prevention of life-threatening thromboembolic complications.

To study the incidence of mutation of Leyden's factor V in patients with venous thrombosis and the hemostatic system in carrier of this genetic defect.A hundred and one patients aged 15-69 years who had venous thrombosis and 10 individuals with mutation of Leyden's factor V without manifestations in the history of thrombosis were examined. Factor V gene mutations and the thrombocyte and plasma links of hemostasis were determined by routine methods.The Leyden's factor V genotype Arg506--Gln was detected in 17 of the 101 patients with venous thrombosis. Patients and asymptomatic individuals with this factor were found to have significant hypercoagulation, as evidenced by lower activated protein C-resistance index, higher factor VIII (von Willebrand's factor) activity, elevated von Willebrand's factor antigen levels, and enhanced intravascular platelet activation. In the presence of lupoid anticoagulant, hypercoagulation increased and protein C activity decreased.Detection of signs of hypercoagulation in patients with inherited thrombophilia at recovery in carriers of Leyden's factor V without clinical manifestations of thrombosis shows it necessary to make a particularly careful monitoring of the hemostatic system in these subjects. This is especially important for hypercoagulation-predisposing situations, such as pregnancy, surgical interventions, long-term immobilization, use of contraceptives, etc. when preventive measures may be used to prevent thrombotic events.

The study of glycosaminoglycanes (GAG) in leukocytes and platelets of patients with hereditary coagulopathy.GAG concentration, composition and fraction identification were made in 25 patients with hemophilia A and 10 patients with Willebrand disease.In hemophiliacs, leukocytes contained low concentrations of GAG. In those with bleeding and synovitis GAG levels were lower than the average, in those with extensive hematomas in the absence of locomotor disorders the above levels were close to normal. Chondroitinsulphate dominated in GAG composition though it was less polydisperse. Heparin sulphate levels were elevated. Platelet GAG characteristics were close to normal. In Willebrand disease leukocyte GAG content and composition was similar to those in hemophilia A except some differences in electrophoretic properties of small GAG components.Metabolism and/or release of GAG from blood cells may be involved in pathogenesis of hemophilia A and Willebrand disease.