Polymorphisms in FVL, prothrombin, and MTHFR genes in samples tested for thrombophilia in Saudi Arabia

Abstract Background Thrombophilia is a multifactorial condition influenced by both genetic and acquired risk factors and plays a key role in the development of venous thromboembolism (VTE). The present study aims to assess the prevalence of thrombophilia-associated genetic variants—Factor V Leiden (FVL), Prothrombin G20210A, and MTHFR polymorphisms—in samples referred to Al Borg Diagnostic Laboratory, while also exploring gender differences and regional variations in their distribution. Methods The present study is a retrospective study conducted on 13,728 samples of Saudi individuals referred for thrombophilia screening at Alborg Diagnostics Laboratory (2014–2024). Genomic DNA was isolated from blood samples, and mutations were identified using Reverse Dot Blot Hybridization (RDBH)-based multiplex PCR. Statistical analysis was performed using SPSS (v21.0). Results Among 7,634 samples tested for FVL, 7.7% (n = 588) were positive, whereas only 2.9% (n = 94) of the 3,278 samples tested for Prothrombin G20210A carried mutations. In contrast, mutations in MTHFR were more common, with 32.6% (918 of 2,816) positive for the 677C>T variant and 55.8% (1,572 of 2,816) positive for the 1298A>C variant, making them the most frequent mutations identified in the cohort. Significant gender differences were observed for FVL and Prothrombin G20210A (p T (p < 0.03). Conclusions The study highlights notable differences in mutation frequencies based on region and gender, underscoring their potential impact on thrombotic risk evaluation and the advancement of personalized medical approaches within the Saudi population.