Factor V Leiden (G1691A), Prothrombin (G20210A) and MTHFR (C677T) Mutations in Yemeni Subjects Tested for Thrombophilia

The Factor V Leiden (G1691A), Prothrombin gene (G20210A) and MTHFR (C677T) mutations are the significant biomarkers for evaluation of tendency for venous thrombosis. The objective of our study was to assess the frequency of factor V Leiden (G1691A), Prothrombin (G20210A) and MTHFR (C677T) variants in Yemeni subjects tested for thrombophilia. <i>Methods</i>: Our study included 441 thrombophilia subjects (138 subjects for FVL (G1691A) mutation, 164 subjects for PT (G20210A) mutation and 139 for MTHFR (C677T) mutation) who were genotyped by method of SNP Genotyping Assay (FVL, PT and MTHFR variants Real Time PCR Kits), and the allele frequencies of factor V Leiden (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations were calculated. The laboratory data of patients tested were reviewed and analyzed in the Aulaqi specialized medical laboratories. <i>Results</i>: Factor V Leiden (G1691A) mutation was present in 10% of all subjects (heterozygotes: 10%, homozygotes mutant: 0%). Prothrombin (G20210A) mutation was found in 8.5% of subjects (heterozygotes: 7.3%, homozygotes mutant: 1.2%) and MTHFR (C677T) mutation in 39.5% of subjects (heterozygotes: 34.5%, homozygotes mutant: 5%). <i>Conclusion</i>: This study reports high prevalence of FVL (G1691A), PT (G20210A) and MTHFR (C677T) mutations among subjects with thrombophilia. Consequently, genotyping assay for of the three thrombotic gene mutations have a priority in the evaluation of subjects with thrombophilia, as well as in the screening for additional clinical conditions correlated with an elevated risk of thrombosis in Sana'a city-Yemen.