The prevalence of G20210A gene mutationas in thrombotic patients

Background and objectivesThrombophilia is a common and dangerous disease. It may be heritable or acquired. A substitution in the 3' untranslated region of prothrombin gene (PRT-G20210A) has been reported to be related to thrombophilia in Caucasians, but this relationship remains in debate in other populations. The hetrozygote form of PRT G20210A gene variant expresses prothrombin 25% higher than the average level. This study was performed to evaluate the prevalence of G20210A gene mutationas in thrombotic patients. Materials and MethodsIn this descriptive and cross sectional study, 299 patients with venous thromboembolism were selected. The subjects consisted of 116 male and 183 female. Traditional risk factors for venous thrombosis and pulmonary thromboembolism such as proteins C, S, ATIII deficiency and APC-resistance were investigated as well. ResultsWe found that only 1.7% of patients with venous thromboembolism were carrier of prothrombin G20210A mutation which is one of the prevalent point mutations in Caucasians patients (18%). The homozygote form of PRT G20210A was not found. ConclusionsProthrombin G20210A mutations in Iranian population as opposed to western populations are rare (1.7%) with APC-resistance being common in the former.