FV Leiden, Prothrombin II, and MTHFR C677T Mutations in Children and Young Adults with Thromboembolic Diseases

Abstract Background: The main markers for estimation of the tendency for thromboembolic disorders are Factor V Leiden, Prothrombin gene (G20210A), and MTHFR (C677T) polymorphism. Objectives: The aim of the present research is to determine the frequency distribution of genetic mutations of (FV Leiden, Prothrombin II, and MTHFR) genes in patients with early-onset thromboembolic diseases. Materials and Methods: This is a retrospective study done on children and young adults of both sexes aged from 1 to 45 years with thromboembolic disease with no obvious reason who attended patients clinics in Al-Salam Teaching Hospital and were referred from private clinics for a period from June 1, 2019, to August 30, 2020. Detection of gene polymorphism was done in three steps started by isolation of DNA from the blood samples followed by in vitro polymerase chain reaction amplification then hybridization of amplification products at 45°C. Results: A total of 50 cases with thromboembolic diseases were enrolled in this study; 21 (42%) were male and 29 (58%) were female. Patients’ mean age was (26.64 ± 8.68) years. Factor V Leiden mutation was the most frequent mutation (12%) followed by MTHFR (C677T) mutation 6%, and the least frequency was for prothrombin gene mutation G20210A (2%). Conclusion: The prevalence of mutations in gene encoding Factor V Leiden was higher than MTHFR C677T and Prothrombin 20210A polymorphisms in our locality, consequently, assay for mutation of Factor V Leiden must be included in the evaluation of patients with thromboembolic diseases with no obvious cause.