Iranian Journal of Medical Sciences (Jun 2009)

Frequency of Factor V Leiden and Prothrombin Polymorphism in South of Iran

  • Javad Dehbozorgian,
  • Abdolreza Afrasiabi,
  • Majid Yavarian,
  • Golam Reza Panahandeh Shahraki,
  • Mehran Karimi,
  • Mohammadreza Bordbar,
  • Pier M. Mannucci

Journal volume & issue
Vol. 34, no. 2
pp. 137 – 140

Abstract

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Normal hemostasis requires balanced regulation of prothromboticand antithrombotic factors. Inherited alteration of factor Vand prothrombin gene, the G20210A mutation, increases the resistanceof factor V to degradation and booster production ofprothrombin respectively. These alterations can increase hypercoagulabilityleading to thrombotic consequences. We aimed toassess the frequencies of these mutations in a group of the populationof southern Iran. In total, 198 healthy volunteers with theage range of 1-64 years were selected and screened for factor VLeiden and prothrombin mutations using polymerase chain reactionand restriction fragment length polymorphism techniques.The carrier frequencies for factor V Leiden and prothrombin mutationin the studied cohort were 4.1% and 3.07%, respectively.In the studied area, the allele frequency of factor V ishigher than the prothrombin G20210A mutation (0.0204 v0.0153). According to the data and Hardy-Weinberger equation,the total risk of thrombosis caused by homozygosity andheterozygosity of factor V Leiden, prothrombin G20210A mutationand compound heterozygosity of these mutations areabout 1 in 500 individuals.

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