[Frequency of thrombophilia gene polymorphisms: factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate-reductase and platelet PLA2 antigen in Shahrekord]

ABSTRACT

Inherited thrombophilic gene polymorphisms have been related to the pathogenesis of venous thromboembolism and its outcomes. Considering the scarcity of data on the frequency of the thrombophilic gene polymorphisms in Iranian populations, the aim of this study was to assess such polymorphisms in healthy individuals. This cross-sectional study was performed on 304 healthy blood donors with no history of venous thromboembolism in Shahrekord. Venous blood was collected in EDTA-treated tubes and then, genotyping of the factor V Leiden, prothrombin G20210A, MTHFR C677T and PLA2 polymorphisms was done using PCR - RFLP. Six [1.97%] cases were heterozygous for factor V Leiden and one was homozygous. Ninty-four [30.92%] and 11 [3.62%] subjects were heterozygous and homozygous for MTHFR C677T, respectively. Two [0.6%] cases were heterozygous for prothrombin G20210A and there was no homozygous case. Twenty-eight [9.2%] and 2 [0.6%] cases were heterozygous and homozygous for PLA2, respectively. In addition, 44.6% of the study population and 14.5%, with the deletion of MTHFR C677T, carried at least one thrombophilia polymorphism. The frequency of thrombophilia polymorphisms is different from the previously published data in Caucasians and also the limited existing data in Kermanshah [Iran]. Moreover, the discrepancies may be associated with the ethnic differences and sample selection