Background: Thrombophilia is an abnormality of blood clotting due to both genetic and non genetic factors. Among genetic causes, Factor V Leiden (R506Q), G20210A in prothrombin, and C667T in methylenetetrahydrofolate reductase (MTFHR) mutations are more important. The purpose of this study was to define the frequency of these three risk factors among normal individuals and betathalassemia from Mazandaran, a province in north of Iran.
Methods and findings: In this study, 105 normal individuals (as control) and 158 patients with beta-thalassemia were investigated in Sari, Mazandaran province. After DNA extraction, genotyping for three genes was determined using PCRRFLP methods. Frequency of the FV Leiden was 4.8% in normal control and 4.43% in beta-thalassemia cases, respectively. C667T allele frequency (allele T) in the MTHFR gene was 45.19% and 36.70% in normal and patients, respectively. Frequency of G20210A variant in normal control was 0.96 percent, but it was not seen in patients.
Conclusions: The results of this study showed no significant rates among the beta-thalassemia patients and normal individuals regarding the three genetic thrombophilia risk factors in this population. So these three genetic variants are not the cause of higher thrombotic risk among the beta-thalassemia patients from the Mazandaran province in Iran.