Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study

Introduction: Thrombophilia genes are frequently reported to be major risk factors in the development of cardiovascular disease, thromboembolism and more importantly of pregnancy abortion. The study was conducted to investigate the prevalence rate of thrombophilia polymorphisms in Iranian women. Methods: 591 women had miscarriage and infertility disorders who were referred to a private pathobiology laboratory in Tehran, Iran. The subjects were evaluated for single nucleotide polymorphisms using PCR-RFLP procedure during February 2013 to May 2016. Current method was validated and verified for specificity, sensitivity and accuracy by approved and known mutations controls and bioinformatics software’s. ResultsAt present study, homozygosity of prothrombin (AA), leiden (AA) and HPA-1 (TT) were not diagnosed. Among these genotypes, occurrence of FII (Wild type-GG and heterozygous-GA) was highest and lowest rate as 96.3% and 3.7%, respectively. The MTHFR 1298 A>C (AC and CC) had the highest frequency (296 subjects) comparison with the other ones. Outcomes frequency rates (%) of heterozygosity PAI-1, MTHFR1298, MTHFR677, Factor XIII, HPA-1, β-Fibrinogen, Factor V Leiden and Prothrombin were 72.6 %, 70%, 40.5%, 29.4%, 25.5%, 20%, 4.4% and 3.7%, respectively. Conclusion: Heterozygosity prevalence rate of PAI-1, MTHFR1298 and MTHFR677 are the most common in women. It would appear thrombophilia genes should be considered in preventive strategies particularly in coagulopathy and miscarriage disorders.