Investigating the prevalence of FXIIIVal34Leu polymorphism in the thalassemic patients of Ilam City

Introduction: The coagulation factor 13 has a fundamental role in homeostasis, protective effects on thrombosis, and some other associated diseases. Due to increasing the chronic coagulability of major thalassemic patients, this study was conducted with aim determining the prevalence of Val34LeuFXIII polymorphism in the thalassemic patients. Materials and methods: The present case-control study was conducted on 100 patients with major thalassemia with a gender ratio of 50 females and 50 males as case and 100 healthy persons as control with a gender combination of 50 males and 50 females that were selected with the referral order on the different days. DNA extraction and the polymerase chain reaction (PCR) were conducted. The genotypes of this polymorphism were identified by RFLP technique and Cfo1 restrictive enzyme. The analysis of data was conducted by SPSS 11.5 software, chi-square, and logistic regression statistical tests. P<0.05 was considered as a significant level. Results: The prevalence of FXIIIVal34Leu polymorphism was achieved 18% that its 83% and 17% were related, respectively, to the heterozygote genotype (Val/Leu) and homozygote genotype (Leu/Leu). 82% of these patients also had the genotype of wild type (Val/Val) among which 66.7% and 33.3 % of mutants were, male and female. 26% of them had Val34Leu polymorphism in the control group that 73% and 27% of them were, respectively, heterozygotic and homozygotic. Conclusion: So far, the prevalence of FXIIIA Val34Leu polymorphism has not been reported in patients with Major thalassemia. A significant relationship wasn’t seen in this study between the prevalence of FXIIIVal34Leu polymorphism in the thalassemic patients compared with the control group.