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Background and purpose: 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.
Materials and methods: 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.
Results: 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.

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Background and purpose: Beside the environmental determinants there are major genetic factors that could cause Myocardial Infarction (MI). The aim of this study was to clarify the relationship between factor V Leiden and prothrombin G20210A with acute MI in patients younger than 50 years of age. Materials and methods: In this case-control study we recruited 101 MI patients and 101 healthy individuals in Fatemeh Zahra Hospital, affiliated to Mazandaran University of Medical Sciences. Demographic information and risk factors including age, past history of MI, diabetes mellitus, hypertension, dyslipidemia, and smoking were recorded. Genes of factor V Leiden and prothrombin G20210A were analyzed using PCRRFLP method. Results: Among all subjects, 191 (94.55%) had no factor V Leiden gene, 10 (4.95 %) were heterozygous, and one (0.49%) was homozygous. In case group, and control group there were seven (6.9%) and three (2.97%) heterozygous for factor V Leiden, respectively (P= 0.27). There was no mutation of prothrombin G20210A gene in 197 (97.5%) individuals and only five (2.5%) were heterozygous. There was no statistically significant difference between the two groups (P= 0.17). Conclusion: The prevalence of factor V Leiden and prothrombin G20210A gene mutation, in patients was not significantly different from that of the normal individuals. However, further studies are recommended in this age group to investigate these factors.