The Role of IL-6, TGF-β, and Genetic Variants in The Pathophysiology of Thalassemia

This study investigates the role of inflammatory cytokines and genetic ‎factors in thalassemia, a genetic blood disorder characterized by ‎chronic anemia and systemic complications. The study compared ‎levels of interleukin-6 (IL-6) and transforming growth factor-beta ‎‎(TGF-β) between thalassemia patients and healthy controls, as well as ‎analyzed genotype and allele frequencies to explore potential genetic ‎associations. Results showed significantly elevated levels of IL-6 ‎‎(25.88 ± 8.85 pg/ml vs. 14.32 ± 12.14 pg/ml, p < 0.001) and TGF-β ‎‎(1590.91 ± 413.31 pg/ml . 30.23 ± 16.19 pg/ml, p < 0.001) in ‎thalassemia patients, indicating a strong association with chronic ‎inflammation and fibrosis. Genetic analysis revealed that the AG ‎genotype and G allele were more frequent in controls (60% and 75%, ‎respectively) compared to patients (50% and 65%, p = 0.002 and p = ‎‎0.02), suggesting a potential protective effect. These findings highlight ‎the importance of cytokine dysregulation and genetic factors in the ‎pathophysiology of thalassemia. Elevated IL-6 and TGF-β levels may ‎serve as biomarkers for disease progression and complications, while ‎genetic profiling could aid in risk stratification and personalized ‎treatment strategies. Future research with larger cohorts is needed to ‎validate these findings and explore their clinical applications. This ‎study contributes to the growing understanding of thalassemia and ‎underscores the potential for targeted therapies to improve patient ‎outcomes‎.