Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Aug;83(3):407-417.
doi: 10.18999/nagjms.83.3.407.

The prevalence of Factor V Leiden (Arg506Gln) mutation in King Khalid University Hospital patients, 2017-2019

Maram Al-Otaiby  1 , Rahaf Althnayan  2 , Alanoud Binmethem  2 , Reema Bader AlEnezy  2 , Munira Abdulrahman Alhadlg  2 , Arjuwana Alaqeel  2 , Sara H AlQahtani  2 , Noman Ghufran  1 , Abdulaziz A Alotaibi  3 , Nada Alayed  2 , Imran Ali Khan  4
Affiliations

The prevalence of Factor V Leiden (Arg506Gln) mutation in King Khalid University Hospital patients, 2017-2019

Maram Al-Otaiby et al. Nagoya J Med Sci. 2021 Aug.

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.

Keywords: Arg506Gln; Factor V Leiden (FVL); G1691A mutation; KKUH; R506Q.

PubMed Disclaimer

Conflict of interest statement

There is no conflict of interest for this study.

References

    1. Benjamin T, Davidian MH, DeSimone EM 2nd. Review of factor V Leiden thrombophilia. US Pharm. 2018;43(5), (Specialty&Oncology suppl):12–15.
    1. Shaya SA, Westrick RJ, Gross PL. Thrombus stability explains the factor V Leiden paradox: a mouse model. Blood Adv. 2019;3(21):3375–3378. doi: 10.1182/bloodadvances.2019031112 - DOI - PMC - PubMed
    1. El-Ghonemy MS, El Sharawy S, Fahmi MW, El-Ashwah S, Denewer M, El-Baiomy MA. Thrombophilic Risk of Factor V Leiden, Prothrombin G20210A, MTHFR, and Calreticulin Mutations in Essential Thrombocythemia Egyptian Patients. Adv Hematol. 2020;2020:7695129. doi: 10.1155/2020/7695129 - DOI - PMC - PubMed
    1. Khan IA, Shaik NA, Kamineni V, Jahan P, Hasan Q, Rao P. Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations. Front Pediatr. 2015;3:34. doi: 10.3389/fped.2015.00034 - DOI - PMC - PubMed
    1. Kujovich JL. Factor V Leiden thrombophilia. Genet Med. 2011;13(1):1–16. doi: 10.1097/GIM.0b013e3181faa0f2 - DOI - PubMed

Supplementary concepts

LinkOut - more resources