The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with β-thalassemia major

Abstract

One hundred beta-thalassemia major (beta-TM) patients and 100 individuals as control were included. Factor V Leiden and prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) gene mutations were genotyped by PCR and allele-specific restriction enzyme techniques. The prevalence of factor V Leiden G1691A, MTHFR C677T and prothrombin G20210A in patients was insignificantly higher than controls. Patients with beta-TM have insignificantly higher frequencies of mutant A allele in factor V Leiden G1691A (11.5 vs. 10.5%), mutant T allele in MTHFR C677T (21.5 vs. 21%) and mutant A allele in prothrombin G20210A (3 vs. 2.5%) than controls. Double heterozygosity for two of the three mutations discussed in this study was found in (10 vs. 8%, P = 0.62) in beta-TM patients and controls. The prevalence of factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T mutations was slightly but insignificantly higher in beta-TM patients than controls. beta-TM is a chronic hypercoagulable condition independent of predisposing genetic factors.

MTHFR C677T, Prothrombin G20210A, and Factor V Leiden (G1691A) Polymorphism and Beta-Thalassemia Risk: A Meta-Analysis

“…For Factor V Leiden G1691A polymorphism, a total of four studies, including 484 β-thalassemia patients and 681 healthy controls, were examined (Table 1 ). Deviations from HWE were observed in two studies [ 25 , 27 ] while the other two studies were in agreement with HWE (Table 2 ). This random-effects meta-analysis demonstrated that prothrombin G20210A gene polymorphism was not found to be significantly associated with β-thalassemia risk [GG vs GA: OR 1.11, CI(0.12-10.44), p=0.93; GA vs AA: OR 0.75, CI(0.14-4.15), p=0.74; AA vs GG: OR 1.02, CI (0.2-8.58) p=0.98; GG vs GA+AA: OR 1.17, CI (0.13-10.30), p=0.89; GA vs GG+AA: OR 0.91, CI (0.10-8.33), p=0.93; AA vs GG+GA: OR 1.44, CI (0.22-9.41), 0.70 and G vs A: OR 0.95, CI (0.18-5.06), p=0.95] as shown in Table 5 and Figure 4 .…”

“…A previous study reported that the T allele (mutant allele) frequencies of MTHFR C677T polymorphism were 21.5% and 21% in β-Thalassemia major and healthy controls, respectively. The frequency of MTHFR C677T mutations was marginally greater but not significantly different between β-thalassemia major patients and controls [ 25 , 27 ]. The frequencies of the allele and genotype of MTHFR C677T gene polymorphism were not significantly associated with β-thalassemia [ 23 , 25 - 26 ].…”

“…The frequencies of the mutant A allele of FVL G1691A gene polymorphism was 11.5% in β-thalassemia major and 10.5% in controls. The frequencies of G and A alleles were not significantly different between groups [ 25 ]. The incidence of the FVL G1691A gene polymorphism was found more in β-thalassemia patients but not significantly different from healthy controls.…”

“…The incidence of the FVL G1691A gene polymorphism was found more in β-thalassemia patients but not significantly different from healthy controls. The A allele (mutant allele) frequencies of the PT G20210A mutation was 3% and 2.5% in β-thalassemia major and healthy controls, respectively; differences in between were not statistically significant [ 25 ]. Pandey et al (2012) show that the occurrence of heterozygous PT G20210A polymorphism was not associated in patients in the β-thalassemia major and controls groups [ 27 ].…”

Genetic Risk Factors of Venous Thromboembolism in the East Algerian Population

“…There is a significant geographic variation in the prevalence of this genetic factor. In healthy controls from the Arab populations, high prevalence of FVL was observed among Jordanians 10.5% to 27.5%, 34,35,36 Lebanese 13.6% to 18.7%, 18,37,38,39 Tunisians 6.0% to 13.6%, 40,41 and Bahrainis 3.1% to 14.7%. 37,42 However, a lower frequency was reported in Saudi Arabians 0% to 2%, 37 and the mutation was not found in Morocco.…”