Abstract
ABSTRACTBackground: Cardiomyocytes are particularly susceptible to complications from iron loading. The blood transfusions in thalassaemia major create loading of iron that cannot be naturally excreted. Apolipoprotein E and Glutathione S-transferase act as the scavenger of free radicals, which are generated due to excess iron. The variants of Apolipoprotein E (ApoE) and Glutathione S-transferase (GST) may play a role in oxidative damage-induced cardiomyopathy, so we aimed to study the association of genetic variants of these genes on diastolic dysfunction in our patients.Materials and methods: One hundred and five β-thalassaemia patients older than 10 years were enrolled for the study. Two-dimensional and M-mode echocardiography analysis was done in all patients. Genotyping of the genetic variants of aforementioned genes was done using the PCR–RFLP method. Serum Glutathione S-transferase levels were estimated by ELISA.Results: Diastolic dysfunction was observed in 24 (22.8%) patients, whereas left ventricular hypertrophy was present in 37(35.2%) patients. There was a significant association of GSTM1 null allele with diastolic dysfunction only. Serum GST levels were also positively correlated with e/a and e/e′ ratio. Positive association of ApoE E2 allele with the diastolic dysfunction was also seen.Conclusions: Patients having Glutathione S-transferase M1 allele and Apolipoprotein E E2 allele are predisposed to oxidative stress-induced cardiac injury.
Highlights
Thalassaemia major patients, presenting severe anaemia, require necessary supportive regular red blood cell transfusions that exacerbate iron overload affecting different organs and iron-driven oxidative stress
Median age was statistically similar in patients with Left ventricular diastolic dysfunction (LVDD) and without LVDD (p = 0.182)
In normal metabolism of the cells, reactive oxygen species (ROS) are generated in small amounts, whereas under conditions of altered cell physiology the production is increased they are responsible for many kinds of cell injuries
Summary
Thalassaemia major patients, presenting severe anaemia, require necessary supportive regular red blood cell transfusions that exacerbate iron overload affecting different organs and iron-driven oxidative stress. Improved insight into the genetic aspects contributing for impaired LV function may help in the management of LV diastolic dysfunction [3,4]. Apolipoprotein E and Glutathione S-transferase act as the scavenger of free radicals, which are generated due to excess iron. The variants of Apolipoprotein E (ApoE) and Glutathione S-transferase (GST) may play a role in oxidative damage-induced cardiomyopathy, so we aimed to study the association of genetic variants of these genes on diastolic dysfunction in our patients. Positive association of ApoE E2 allele with the diastolic dysfunction was seen. Conclusions: Patients having Glutathione S-transferase M1 allele and Apolipoprotein E E2 allele are predisposed to oxidative stress-induced cardiac injury
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