frequency of factor v leiden and prothrombin polymorphism in south of iran

normal hemostasis requires balanced regulation of prothrombotic and antithrombotic factors. inherited alteration of factor v and prothrombin gene, the g20210a mutation, increases the resistance of factor v to degradation and booster production of prothrombin respectively. these alterations can increase hypercoagulability leading to thrombotic consequences. we aimed to assess the frequencies of these mutations in a group of the population of southern iran. in total, 198 healthy volunteers with the age range of 1-64 years were selected and screened for factor v leiden and prothrombin mutations using polymerase chain reaction and restriction fragment length polymorphism techniques. the carrier frequencies for factor v leiden and prothrombin mutation in the studied cohort were 4.1% and 3.07%, respectively. in the studied area, the allele frequency of factor v is higher than the prothrombin g20210a mutation (0.0204 v 0.0153). according to the data and hardy-weinberger equation, the total risk of thrombosis caused by homozygosity and heterozygosity of factor v leiden, prothrombin g20210a mutation and compound heterozygosity of these mutations are about 1 in 500 individuals.