Abstract
Beta-thalassemic patients require regular blood transfusion to sustain their life
which leads to iron overload and causes oxidative stress. The aim of this study was
to investigate the status of variants in genes including GSTM1 , GSTT1 (null/present), CT-262 (C > T) and CT-89 (A > T), glutathione peroxidase (GPx), and
myeloperoxidase (MPO). The genotype studies were conducted with 200 thalassemia major
(TM) patients and 200 healthy controls. Genotyping of GST gene was performed by multiplex
polymerase chain reaction (PCR), whereas for CT, GPx and MPO genesvariants PCR- restriction
fragment length polymorphism technique used. However, the enzyme activities were measured
only in the patients group to assess the association with the genotypes. All enzyme
estimations were performed by ELISA. We observed higher frequency of GSTT1 null, CT-89
(A > T), GPx1 198 (C > T) and MPO-463 (G > A) polymorphisms in TM patient than healthy
controls. However, CT-262 (C > T) polymorphism was not found to be statistically significantly
different between patients and controls. Our results suggest that frequency of null
allele of glutathione-S-transferase is significantly high among TM patients. The other
alleles CT-89 (A > T), GPx1 198 (C > T), and MPO-463 (G > A) are linked to decreased
CT, GPX, and MPO enzyme activities.
Keywords thalassemia - glutathione-S-transferase - polymorphism - hemoglobin
