Study of prevalence of thrombophilic genes (FVL G1691A, prothrombin G20210A and MTHFR C677T) polymorphisms in patients with venous thromboembolism in Benha university hospital; cross sectional study.

Idris, Amal; Elwia, Sania; Marei, Yasmin; Bendary, Ahmed; Mahmoud, Moamena Yahia

doi:10.21608/bmfj.2024.243200.1926

Study of prevalence of thrombophilic genes (FVL G1691A, prothrombin G20210A and MTHFR C677T) polymorphisms in patients with venous thromboembolism in Benha university hospital; cross sectional study.

Articles in Press

Document Type : Original Article

Authors

¹ Professor of Medical Biochemistry & Molecular Biology Head of Molecular Biology Unit Faculty of Medicine - Benha University

² Department of Biochemistry, Faculty of Medicine, Banha University, Egypt.

³ Biochemistry department, Benha Faculty of Medicine

⁴ Assistant professor of Cardiology Faculty of Medicine - Benha University

⁵ Department of Biochemistry &amp; Molecular Biology Faculty of Medicine - Benha University

10.21608/bmfj.2024.243200.1926

Abstract

Background: Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors. Where there are innumerable acquired causes, the possibility of inherited thrombophilia cannot be ignored. Objective: To evaluate the prevalence and the association of the genetic markers; Factor V Leiden ( G1691A), Prothrombin gene (G20210A) and methylene tetrahydro folate reductase (MTHFR C677T) polymorphisms in high-risk patients with venous thromboembolism. Patients AND Methods: A study comprising of 20 patients of both sexes with clinical, radiological and laboratory evidence of venous thromboembolism was conducted. A venous blood sample collected from patients was screened for these thrombophilic genes with an aid of Polymerase Chain Reaction (PCR) method for amplification of a target DNA sequence and the genotyping detection is based on melting curve analysis. Results: The highest genotyping frequency was FVL G1691A polymorphism, (40.0%) of included patients were FVL G1691A carriers, (10%) had F2 G20210A polymorphism which is the lowest frequency and (25%) had MTHFRC677T polymorphism. Genotyping frequency of these polymorphisms had no statistically significant difference between VTE subgroups. Conclusion: FVLG1691A polymorphism is most prevalent among high risk venous thromboembolic patients followed by prothrombin G20210A especially in patients less than 50 years old, strong family history of VTE, personal history of unprovoked or recurrent VTE.

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