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

Nitu Nigam,Prithvi K Singh,Shailendra Saxena,Monica Agrawal,Harish Gupta,Sanjay Nigam

doi:10.7759/cureus.10743

Abstract

BackgroundBeta (β)-thalassemia major patients frequently suffer from many vascular problems. Thrombophilia is a blood disorder that comprises imbalances in the blood coagulating factor due to ecological and hereditary components. Previous evidence shows that thrombosis is the commonest risk in beta-thalassemia patients. Several studies have examined that MTHFR C677T, prothrombin G20210A (PT G20210A), and Factor V Leiden G1691A (FVL G1691A) polymorphism play a crucial role in the development of β-thalassemia major, yet the result was questionable and uncertain. Therefore, in this study, we executed the correlation between these gene polymorphisms with β-thalassemia major patients.MethodsSuitable keywords were used to search related articles in PubMed, Google Scholar, and Web of Science. In this random-effects meta-analysis, we analyzed the odds ratio (OR) for the estimation of risk.ResultsA total of nine research articles with 645 β-thalassemia major patients and 989 healthy controls were incorporated in this meta-analysis. The pooled OR was assessed in MTHFR C677T, PT G20210A, and FVL G1691A polymorphism. This random-effects meta-analysis demonstrated that MTHFR C677T, PT G20210A, and FVL G1691A gene polymorphism did not significantly associate with β-thalassemia major. Moreover, the heterogeneity was significantly found in genotype CC vs CT+TT C677T (I2=61%) and allele C vs T (I2=71%) of MTHFR and genotype GG vs GA (I2=95%), GG vs GA+AA (I2=95%), GA vs GG+AA (I2=95%), and allele G vs A (I2=93%) of FVL G1691A.ConclusionThe results of this meta-analysis show that MTHFR C677T, prothrombin G20210A, and Factor V Leiden (G1691A) gene polymorphism are not a risk factor for β-thalassemia major.

Highlights

Beta (β)-thalassemia major is a single genetic disease affected by mutations in β-globin genes
Several studies have examined that methylenetetrahydrofolate reductase (MTHFR) C677T, prothrombin G20210A (PT G20210A), and Factor V Leiden G1691A (FVL G1691A) polymorphism play a crucial role in the development of β-thalassemia major, yet the result was questionable and uncertain
This random-effects meta-analysis demonstrated that MTHFR C677T, PT G20210A, and FVL G1691A gene polymorphism did not significantly associate with β-thalassemia major

Summary

Introduction

Beta (β)-thalassemia major is a single genetic disease affected by mutations in β-globin genes. These mutation causes a complete deficiency or reduces the formation of β-globin chains [1]. Various studies reported that the hypercoagulability in βthalassemia patients is associated with learned risk factors, including iron overload, hypothyroidism, splenectomy, abnormal liver function, platelet abnormalities, cardiopulmonary abnormalities, and reduced levels of natural anticoagulants [10,11,12]. Several studies have examined that MTHFR C677T, prothrombin G20210A (PT G20210A), and Factor V Leiden G1691A (FVL G1691A) polymorphism play a crucial role in the development of β-thalassemia major, yet the result was questionable and uncertain. In this study, we executed the correlation between these gene polymorphisms with β-thalassemia major patients

Methods

Results

Discussion

Conclusion