Prothrombin 20210 Mutation (Factor II Mutation)

University of North Carolina at Chapel Hill, North Carolina, United States
Circulation (Impact Factor: 14.43). 08/2004; 110(3):e15-8. DOI: 10.1161/01.CIR.0000135582.53444.87
Source: PubMed

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    ABSTRACT: Aim: Deep venous thrombosis (DVT) is an interaction between hereditary and acquired factors. Prothrombin gene mutation is one of these hereditary risk factors that may cause DVT through elevation of the Prothrombin level and therefore, requires special attention. In this study we tried to have an idea about frequency of this gene mutation in patients with DVT. Methods: Prothrombin gene mutation was looked for in forty Warfarin-Resistances DVT patients. The results were compared to another forty Warfarin-Sensitive DVT patients and thirty healthy blood donors. In addition blood samples were assessed for the levels of protein C, protein S, antithrombin III and anticardiolipin antibodies. Results: Recurrent DVT and positive family history were more frequent in the Warfarin-Resistance group. Prothrombin gene mutation was found in DVT patients as well as healthy controls, but with different percentages. The higher frequency of this gene mutation in Warfarin-Resistance individuals may confirm its mechanism in causing DVT. Conclusion: This study supports that Prothrombin gene mutation is present in our population, especially DVT patients. The study also suggests that patients with Warfarin-Resistance should be tested for the presence of this gene mutation.
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    ABSTRACT: Venous thrombosis occurs as a consequence of genetic and environmental risk factors. Since the discovery of factor V Leiden, the most common genetic risk factor, there has been intense interest in clarifying the roles of genes and the environment with thrombosis risk. The translation of this risk information to clinical practice is a challenging one in the setting of a rapidly expanding knowledge base that includes application of genetic medicine. There are benefits, but also potential harms, of testing for inherited disorders associated with thrombosis. This paper reviews inherited risk factors for thrombosis and discuss clinical applications of testing.
    Preview · Article · Feb 2005 · Hematology
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    ABSTRACT: This review summarizes recent information about the major thrombophilic conditions, their clinical relevance, and practical aspects pertaining to testing for these thrombophilias, such as when to test and what assays are appropriate. Conditions covered include factor V Leiden, prothrombin 20210 mutation, proteins C and S, antithrombin, antiphospholipid antibodies, homocysteine, and methylene-tetrahydrofolate-reductase enzyme mutation. Additional comments focus on education of patients and educational resources for patients, such as the National Alliance for Thrombosis and Thrombophilia (
    No preview · Article · Mar 2006 · Journal of Thrombosis and Thrombolysis
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