Potential prevention of thromboembolism by genetic counseling and testing for two common thrombophilia mutations.

作者: Christos Yapijakis , Thalia Antoniadi , Katerina Salavoura , Costas Voumvourakis , Eleftherios Vairaktaris

DOI:

关键词:

摘要: Background/Aim: Thrombophilia is a multifactorial predisposition for thromboembolism affecting about tenth of any population. We investigated whether genetic counseling combined with molecular testing two common dominant mutations (coagulation factor V Leiden and prothrombin G20210A) may increase prevention venous thromboembolic incidents in individuals positive family history compared to the general Patients Methods: Mutation detection was carried out by Restriction Fragment Length Polymorphism analysis DNA samples 96 unrelated healthy Greeks (group A) who asked various reasons had at least relatives 100 B). Results: In group A, both were detected five-fold higher frequencies (33.33% 19.79% B, which typically found Greek population (6% 4%, respectively). Conclusion: populations high prevalence these mutations, at-risk significantly disease.

参考文章(52)
Birgit S. Gathof, Susanne M. Picker, Julieta Rojo, Epidemiology, etiology and diagnosis of venous thrombosis European Journal of Medical Research. ,vol. 9, pp. 95- 103 ,(2004)
G. Sarig, Z. Weiner, J. Younis, Z. Blumenfeld, N. Lanir, B. Brenner, Thrombophilic Polymorphisms Are Common in Women with Fetal Loss without Apparent Cause Thrombosis and Haemostasis. ,vol. 82, pp. 6- 9 ,(1999) , 10.1055/S-0037-1614620
K. Aroni, E. Ioannidis, S. Voudouris, C. Yapijakis, Homocysteinemia-associated anetoderma, in a young woman with anorexia nervosa history. International Journal of Dermatology. ,vol. 50, pp. 343- 345 ,(2011) , 10.1111/J.1365-4632.2010.04511.X
Eelco F M Wijdicks, Alexander Y Zubkov, Deep venous thrombosis prophylaxis in cerebral hemorrhage. Reviews in neurological diseases. ,vol. 6, pp. 21- 25 ,(2009)
Emmanuel de Maistre, Beatrice Terriat, Anne-Sophie Lesne-Padieu, Nicolas Abello, Olivier Bouchot, Eric F. Steinmetz, High incidence of venous thrombosis after surgery for abdominal aortic aneurysm. Journal of Vascular Surgery. ,vol. 49, pp. 596- 601 ,(2009) , 10.1016/J.JVS.2008.10.005
Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster, Frits R. Rosendaal, Richard J. Dirven, Hans de Ronde, Pieter A. van der Velden, Pieter H. Reitsma, Mutation in blood coagulation factor V associated with resistance to activated protein C Nature. ,vol. 369, pp. 64- 67 ,(1994) , 10.1038/369064A0
Clive Kearon, Epidemiology of Venous Thromboembolism Seminars in Vascular Medicine. ,vol. 01, pp. 007- 026 ,(2001) , 10.1055/S-2001-14668
R. Selby, W. Geerts, F.A. Ofosu, S. Craven, L. Dewar, A. Phillips, J.P. Szalai, Hypercoagulability after trauma: Hemostatic changes and relationship to venous thromboembolism Thrombosis Research. ,vol. 124, pp. 281- 287 ,(2009) , 10.1016/J.THROMRES.2008.10.002