The Prevalence of Hereditary Thrombophilia genetic variants in Recurrent Pregnancy Loss

Background: The relationship between thrombophilia genes and recurrent pregnancy loss has been discussed. Namely, in diverse conditions including the thermolabile variation of the 5,10-methylenetetrahydrofolate reductase (MTHFR). The aim of this study was to investigate the prevalence of MTHFR C677T and A1298C, F2G20210A and F5 G1691A genetic variants in Iranian women with recurrent pregnancy loss. Methods: A total of 300 women with two or more recurrent pregnancy loss, with mean age 31.8 (±4.6) years were enrolled in the study. Genomic DNA of participants was evaluated using polymerase chain reaction followed by Sanger sequencing to determine the genotype frequency. Results: Among 300 subjects the frequency of MTHFR C677T were 40% and 9.7% for heterozygotes and mutated homozygotes respectively. These genotypes for A1298C were 54% and 12.7% respectively. There were no homozygous genotype for F2 gene but 2.7% were heterozygote. FVL heterozygote and mutated homozygotes were 3.3% and 1% respectively. Conclusion: It has been found that MTHFR polymorphisms to be significantly associated with hyperhomocysteinemia and vitamin B12 deficiency for recurrent pregnancy loss. The allele frequencies for the assessed genotypes in this study are consistent with the data obtained for other countries. Although we were not able to confirm the association between these genetic variants and RPL in the study group, the importance of such study cannot be ignored. According to the high prevalence of these variants,we recommend genetic testing for women with RPL before therapeutic decisions. Study with a larger population of RPL and normal couples should be conducted.

کلیدواژه ها:

Recurrent Pregnancy Loss ، Thrombophilia ، Variants ، MTHFR