Prevalence of Thrombophilia in Palestine and the Association of Thrombophilic Gene Polymorphisms with Recurrent Pregnancy Loss

Abstract

Background and Objectives: Inherited thrombophilia may be caused by mutations, polymorphisms in a variety of genes mainly involved in haemostatic pathways. The aims of this study to estimate the prevalence of thrombophilia and to determine the correlation of specific inherited thrombophilias and recurrent pregnant loss (RPL) among Palestinian women. Materials and Methods: For this purpose, 11 thrombophilic gene polymorphisms the including Factor V Leiden and MTHFR C677T polymorphisms were evaluated. Two thousands women who were referred for thrombophilc genetic screen test between the years 2013 and 2018 were included in the study and evaluated for the presence of thrombophilic gene polymorphisms and compared to 200 healthy volunteers. Results: The prevalence of thrombophilia in Palestine is 11.7-27.2% among normal population in contrast to 39.90% MTHFR C677T gene polymorphism and FVL gene polymorphism 14.20%. The most common thrombophilia in our study group was MTHFR C677T mutation with 39.90% followed by MTHFR MTHFR 1298A/C with a prevalence of 31.70%, $-Fibrinogen (-455 G>A) with a prevalence of 23.60%, Factor XIII with a prevalence of 16.40%, FVL (H1299R) with a prevalence of 13.40, followed by FV Leiden 11.49% and the least common was Prothrombin (G20210A) with a prevalence of 5.30%. The MTHFR MTHFR C677T would be expected to play a major role to recurrent pregnancy loss (RPL). These findings indicate that RPL with homozygous genotype for (C677T and A1298C) either alone or compound heterozygous genotypes have a high risk of pregnancy loss in Palestine. Present study result also shows that a significantly higher frequency of factor V leiden polymorphism among the patients compared to control groups. The importance of determining at least 6 thrombophilic gene polymorphisms are most effective in increasing the risk of RPL in patients experiencing recurrent abortion losses. Conclusion: The study suggests the high need to determine at least 6 thrombophilic gene polymorphisms and provides evidence for a significant correlation between recurrent miscarriages and MTHFR C677T and Factor V mutation in our population.