ASSOCIATION OF INTERLEUKIN-6, INTERLEUKIN-4, AND TUMOR NECROSIS FACTOR-ALPHA GENE POLYMORPHISMS WITH SERUM CYTOKINE PROFILES IN BETA-THALASSEMIA MAJOR PATIENTS

Beta Thalassemia is an inherited condition results from mutation in β globin gene which leads to several complication including, severe anemia and iron overload among others, in which the signs appear in early childhood. This study investigated the possible role of cytokine gene polymorphism on thalassemia patients. Our research involved 72 patients diagnosed with beta thalassemia major and a control group of 40 cases. Both groups' ages ranged from 1 to 30 years. Serum cytokines IL-6, IL-4, and TNF-α level were measured using enzyme linked immunosorbent assay (ELISA) as well as analyzing the genetic profile for the same genes. Blood samples were subjected to DNA isolation and molecular detection for gene polymorphism (interleukin 6 polymorphism at position 174, interleukin 4 polymorphisms at position 589, and tumor necrosis factor alpha polymorphism at position 308) using ARMS-PCR. Results showed significant increase in IL-6 and TNF-α (pC) polymorphism, the odds ratio for the GC genotype was 0.66 (95% CI: 0.27–1.61), whereas the odds ratio for the CC genotype was 1.42 (95% CI: 0.22–15.52). The CC, CT, and TT genotypes displayed varying frequencies among groups in the IL-4 gene polymorphism. In relation to the TNF-α gene polymorphism, the AA genotype displayed an odds ratio of 1.7 (95% CI: 0.13–91.27), while the large confidence interval suggests poor statistical precision, whereas the GG genotype was not substantially linked to thalassemia.