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Background  β-thalasemia major (β-TM) patients often suffer from various vascular complications together with increased oxidative stress. Hyperhomocysteinemia (Hhcy) has been defined as a risk factor for these complications. Genetic polymorphism of methylenetetrahydrofolate reductase  (MTHFR) C677T  has been shown to cause Hhcy particularly in individuals with low B-vitamins. However, the status of homocysteine (hcy) in β-TM has not yet been adequately defined.    Aim  To evaluate the genetic polymorphism of  MTHFR C677T  among β-TM patients and its prospective contribution to Hhcy and related oxidative changes.    Subjects and Methods  Genotyping for  MTHFR C677T  was done by PCR-RFLP technique. Plasma hcy, vitamin B12, folate, malondialdehyde (MDA), total antioxidant capacity (TAC), oxidized low density lipoprotein (oxLDL), total nitric oxide (NOx) and lipid profile were determined in 66 β-TM patients and 66 control subjects of matched age and sex.    Results  The prevalence of  MTHFR 677TT  genotype was significant among β-TM patients (12%) compared to (3%) controls (OR = 4.9, 95%CI:1.2–24.2,P = 0.03). A strong association between Hhcy and  MTHFR TT  genotype was observed (OR = 7.7, 95%CI:2.8–20.9) where all β-TM patients with  TT  genotype were hyperhomocystienemic (≥ 15 μmol/l) and having sub-optimal folate level than those with  CT  or  CC  genotypes. Hyperhomocystienemic patients have suffered from increased oxidative stress characterized by significant increase in plasma MDA and oxLDL, and a significant reduction of plasma TAC and total NOx. Lipid profile of those patients was severely affected indicated by reduction in HDL and HDL/LDL and elevation in atherogenic index as compared with  CC  genotype. Other measured parameters were not significantly different among β-TM patients with different  MTHFR  genotypes.    Conclusion  This study suggests that Egyptian β-TM patients with  MTHFR 677TT  genotype could be at increasing risk of developing Hhcy particularly with folate deficiency. This state of Hhcy may account potentially for most oxidative changes and atherogenic vascular complications frequently reported in β-TM patients.

plos one

Impact of Genetic Polymorphism of methylenetetrahydrofolate reductase C677T on Development of Hyperhomocysteinemia and Related Oxidative Changes in Egyptian β-Thalassemia Major Patients