Glutathione S-transferase gene deletions and their effect on iron status in HbE/β thalassemia patients

Abstract

Iron overload and oxidative stress are main pathophysiological features of HbE/β thalassemia patients. Glutathione S-transferase genes (GSTT1 and GSTM1) are well known detoxification agents, and any mutation in the gene is known to cause oxidative damage. This study was aimed to compare the prevalence of GST deletions in 240 HbE/β thalassemia patients with 100 controls and to determine role of deletions on iron overload. We observed significantly higher frequency of GSTT1 (P = 0.001) and GSTT1/GSTM1 (P = 0.03) in comparison to controls. Patients who had null genotype for both the alleles, i.e., GSTT1/GSTM1 had significantly higher levels of serum iron (P = 0.007) and serum ferritin (P = 0.001) than patients with normal genotype for GST deletions. This is the first study to prove the role of GST gene deletions with iron overload in HbE/β thalassemia.