Abstract

HERNANDEZ-CUERVO, Helena; USME, Solangy  and  YUNIS, Juan J. Frequently associated genotypes to thrombophilia. Biomédica [online]. 2014, vol.34, n.1, pp.132-142. ISSN 0120-4157.  https://doi.org/10.7705/biomedica.v34i1.839.

Venous thromboembolism is an important pathological entity that causes high morbidity due either to the disease or its complications. The incidence in the world ranges between 1:100 in adults and 1:100,000 in children. Risk factors for the disease include genetic as well as environmental factors. Among them, factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR C677T and A1298C (which until recently were considered risk factors), have been widely studied given their impact in the world. This review presents in a clear and concise way what a thrombous is and how it is formed; how a clot is able to produce thromboembolic disease; what are the main nosological entities involved, and their main genetic causes. The most epidemiologically important genetic alterations and studies conducted in Colombia will be emphasized.

Keywords : Thrombophilia; prothrombin; thrombosis; venous thrombosis; pulmonary embolism.

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