Relationship of methylenetetrahydrofolate reductase C677T genetic polymorphism and oxidative changes in Egyptian patients with β-thalassemia major

Authors

Alshimaa R. S. Elkholy, Menoufia UniversityFollow
Emad F. Abdalhalim, Menoufia University
Mohammad G. Alhelbawy, Menoufia University
Rawhia H. El Edel, Menoufia University

Subject Area

Clinical Pathology

Article Type

Original Study

Abstract

Objectives To evaluate the genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) C677T among patients with beta-thalassemia major and its related oxidative changes. Background Accelerated oxidative damage is one of the hallmarks in beta-thalassemia major. Genetic polymorphism of MTHFR C677T has been shown to cause hyperhomocysteinemia, which acts as a prooxidant. Material and methods Genotyping for MTHFR C677T was evaluated by PCR-restriction fragment length polymorphism technique. Complete blood picture, hemoglobin electrophoresis, serum ferritin, and total antioxidant capacity (TAC) were determined in 60 patients with beta-thalassemia major and 20 controls of matched age and sex. Results MTHFR 677TT genotype was significantly higher among patients with beta-thalassemia major (23.3%) compared with controls (5%). There was significant decrease in TAC in thalassemic patients as compared with controls. TAC was significantly lower in TT group than both of CC and CT groups. Ferritin level was significantly higher in thalassemic group than controls. Conclusion Detection of MTHFR (C6777T) genetic polymorphism among thalassemic patients could be helpful in assessment of oxidative stress among these patients.

Recommended Citation

Elkholy, Alshimaa R. S.; Abdalhalim, Emad F.; Alhelbawy, Mohammad G.; and El Edel, Rawhia H. (2020) "Relationship of methylenetetrahydrofolate reductase C677T genetic polymorphism and oxidative changes in Egyptian patients with β-thalassemia major," Menoufia Medical Journal: Vol. 33: Iss. 3, Article 40.
DOI: https://doi.org/10.4103/mmj.mmj_87_19