Abstract
Arg506Gln mutation is responsible for one of the procoagulant factors and most common inherited thrombophilia in the Factor V Leiden (FVL) family. The replacement of the missense mutation for Arg506Gln / R506Q is at 1691st position from Guanine to Adenine with the modification of the amino acid from arginine to glutamine. The aim of this study was to investigate the current prevalence of the G1691A mutation in the FVL gene in the capital city's King Khalid University Hospitals (KKUH). Since 2017-2019 we have recruited 482 patients in these cross-sectional studies to test the G1691A mutation in KKUH's FVL gene. DNA was extracted using 2mL of the EDTA blood and genotyping was performed with polymerase chain reaction and the data was analyzed using Sanger sequencing. In this study, 4.4% of the G1691A mutation was found to be positive (combined heterozygous-GA and homozygous-AA variants) and 95.6% of them with negative, i.e., homozygous normal-GG genotypes. Our study concludes that with the advances in genetic testing and their recent availability, early mutation detection could approve the genotype risks for many patients and this mutation is not as rare as previously believed in the Saudi region as our study has established with a 4.4 percent prevalence.