Patients having Glutathione S-transferase M1 allele and Apolipoprotein E E2 allele are predisposed to oxidative stress-induced cardiac injury.

Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides (NPs) are produced within the heart, which are then released into the circulation in response to ventricular wall stress. We, therefore, aimed to study the relation between ventricular dysfunction and N-terminal pro-B-type natriuretic peptides (NT-proBNPs). We enrolled 105 patients with increased serum ferritin levels and echocardiography was performed. We collected blood samples and NT-proBNP levels were measured in them. Though we found that the studied group had no significant difference in the mean serum NT-proBNP levels, in patients with or without hypertrophy ( = 37, = 0.992), the NT-proBNP levels were found to be significantly increased in patients with diastolic dysfunction ( = 24, < 0.0001 with mean values of 577.67 ± 122.01 and 456.50 ± 48.40 pg/mL in patients with and without diastolic dysfunction, respectively). The NT-proBNP levels correlated well with the echocardiography indices, such as left ventricular end-systolic diameter (LVESD), ratio between early mitral inflow velocity and mitral annular early diastolic velocity (E/E' ratio), and ratio of the early (E) to late (A) ventricular filling velocities (E/A ratio), and were found to have significant positive correlation with the serum ferritin levels. The NT-proBNP levels correlated significantly with diastolic dysfunction; thus, serum ferritin levels could be useful for assessing the diastolic dysfunction in patients with beta thalassemia.

OPG rs2073618, RANK rs75404003, and RANKL rs9594782 SNPs may predispose LVH in thalassemia patients. Patients with diastolic dysfunction showed increased levels of serum OPG.

Regular transfusion leads to cardiac siderosis resulting in cardiac complications that account for more than 71% of the total mortality in thalassemia patients. We aimed to study the variants of matrix metalloproteinase-9 (MMP9), matrix Gla protein (MGP), and estrogen receptor α(ERα), which might be contributing to atherosclerosis, leading to heart failure in thalassemia major. One hundred and five thalassemia patients on regular transfusion and iron chelation therapy were enrolled for the study. Carotid artery intimal medial thickness (CIMT) measurement was done to check for atherosclerosis. 9 (C1562T), (T138C), and α gene ( II (rs2234693T > C) and I (rs9340799A> G) polymorphism were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. CIMT values were within the normal range (<0.90 mm) in all patients. There was no difference in mean CIMT values between males and females (0.56 ± 0.11 versus 0.56 ± 0.12, = 0.928). There was no correlation of CIMT with age, body surface area, and body mass index as well as with serum ferritin levels. No statistically significant difference in frequency of MMP9, MGP, and ERα genotypes was seen in two dichotomized groups of CIMT (CIMT< 0.56 and CIMT ≥ 0.56). Variants of , , and ERα have a reserved influence on cardiac disease pathogenesis, and the disease phenotype in thalassemia patients may be more strongly impacted by other factors.