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199406, —анкт-ѕетербург, ул.√аванска€, д. 49, корп.2

ISSN 1999-6314

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Vol. 14, Art. 66 (pp. 819-844)    |    2013       

Genetic polymorphism of soluble haemostatic factors in the pathogenesis of venous thromboembolism
Demyanenko A.V.1, Kapustin S.I.2, Soroka V.V.1, Chechulov P.V.1

1Emergency research institute named after I.I. Dzhanelidze, St. Petersburg
2Russian research institute of hematology and transfusiology, St. Petersburg

Brief summary

The frequency of occurrence of deep vein thrombosis (DVT) and pulmonary embolism (PE) is about 1 in 1000 annually. Venous thromboembolism (VTE) is a multifactor disease with the underlying genetic defects so called thrombophilia. Based on the recent research, genetic factors with increased risk of VTE development include deficiencies of natural anticoagulants (protein C, protein S, antithrombin III) and mutations in the factor V (FV Leiden) and prothrombin (FII G20210A) genes. Notably, the careful analysis of patients with VTE and their relatives couldnТt find these mutations in more than 50% of family cases. This fact reflects the presence of other thrombophilic conditions underlying a large proportion of VTE episodes. The main goal of this article is to analyze and represent the information from different literary sources about the role of genetic polymorphism of the soluble haemostatic factors in VTE pathogenesis. We provide a systematic review of more than 50 original articles and meta-analyses cited in Medline and PubMed that focus on this problem.

Key words

venous thrombosis, risk factor, inherited thrombophilia

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