Frequency of Factor V Leiden, Prothrombin G20210 and C667T Mutations in Methylenetetrahydrofolate Reductase in Patients with Beta and Intermediate Thalassemia Compared with Normal Subjects in Northern Iran

Background and Mutation in factor V Leiden (R506Q)، mutation of G20210Â in prothrombin and mutation of Ç667T in methylenetetrahydrofolate reductase (MTFHR) are part of genetic variant that increase the risk of thrombosis. The purpose of this study was to define the frequencies of three risk factors among thalassaemia major and thalassaemia intermedia compared with the normal subjects. Ïn this study in Sari city، North of Ïran، 164 participants including 59 patients with thalassaemia intermedia، 99 patients with thalassaemia major and 105 normal individuals (as control) were studied. Âfter DNÂ extraction from peripheral blood using the standard method، two different methods، ÂRMS-PÇR and PÇR-RFLP were used to determine the mutation in each of the three genes. Finally، frequency of the alleles was statistically compared. Frequency of the mutation of G20210Â in normal control was 0. 48 percent and it was not seen in patients with thalassaemia major. Frequency of mutant allele Ç667T (allele T) in gene MTHFR were 24 percent in normal subjects، 26 percent in patients with intermedia and 18. 4 percent in patients with majors thalassaemia. Frequency of FV leiden were 3. 3 percent in normal control، 1. 06% in thalassaemia intermedia and 0. 48 percent in thalassaemia major. Çonclusion: The results of this study showed that despite higher thrombotic risk in patients with thalassaemia (especially in thalassaemia intermedia)، there was no significant difference among the thalassaemia major، intermedia and normal subjects on three genetic risk factors studied in this research.