Akademik Veri Yönetim Sistemi
Genel Tip Dergisi, cilt.33, sa.3, ss.268-273, 2023 (Scopus, TRDizin)
Objectives: Polymorphisms in the thrombophilia genes such as Factor V Leiden (FVL), Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) cause genetic predisposition to thrombophilia. The regional incidence of these polymorphisms varies. The aim of our study is to evaluate the regional frequency of the most common single nucleotide polymorphisms of these thrombophilia genes. Methods: In this retrospective study, patients diagnosed with VTE in our center were included in the study. The presence of FVL, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, plasminogen activator inhibitor (PAI)-1, β-Fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIA (L33P) were investigated in blood samples obtained from the patients via pyrosequencing technique, and the association of genotype disorders was also evaluated. Results: Eight genotypes were analyzed in 2000 patients whose thrombophilia panel was studied in our clinic. The frequency of heterozygosity was 4.6% for the Factor II G20210A polymorphism, the homozygosity was 0.4%for the Factor V Leiden polymorphism, 7.6% for MTHFR C677T, 48.1% and 15.7for MTHFR A1298C, 38.8% and 13%for PAI-1, 30.3% and 4%for β-Fibrinogen, 23.3% and 2.4% for Factor XIIIA (V34L) and 17.7% and 1.5% for Glycoprotein IIIA (L33P) respectively. Conclusions: Factor V Leiden and prothrombin G20210A mutations were found at a higher rate in our region compared to other regions in the west.