Document Type : Original Article


1 Department of Molecular Biology & Genetics, Uromia University of Medical Sciences, Uromia, Iran

2 Immunogenetic Laboratory, Department of Immunology, School of Medicine, Tehran University of Medical Sciences

3 Hematology-Oncology and BMT Research Center, Shariati Hospital, Tehran, Iran


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.  
To analyze the genetic profile of Th1 and Th2 cytokines in Iranian patients with   β-thalassemia major.
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.  
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.  
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.