cytokine gene polymorphisms in iranian patients with beta-thalassemia major

background: β-thalassemia as a hereditary disease is defined as defective synthesis of   β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of   β-thalassemia. single nucleotide polymorphisms (snps) within the promoter region or other regulatory sequences of cytokine genes lead to overall production of cytokines.   objective: to analyze the genetic profile of th1 and th2 cytokines in iranian patients with   β-thalassemia major. methods: allelic and genotype frequencies of cytokine genes were determined in 30 thalassemia patients and 40 healthy subjects using pcr-ssp assay. allele and genotype frequencies were calculated and compared with those of normal controls.   results: the results of our study show a significant decrease in a allele at position utr 5644 ifn-   γ, g alleles at position -238 tnf-   α and 166 il-2, and c allele at position -590 il-4. tgf- β   haplotype tg/tg increased whereas tgf-β haplotype cg/cg and il-10 haplotype gcc/acc decreased significantly in all patients.   conclusion: data of this investigation suggest that variations among cytokine gene polymorphisms may contribute to the disease susceptibility. a finding which needs to be fairly clarified in other ethnic groups.