Year: 2025
Type: article
Study design: Observational Study
Abstract: 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.
DOI: 10.14419/gx1v9h63
Authors: Hamed Hussein Ali Al- Saadi, Muna Shukri Mahmood Al-Mashhadani, Haider Jassim Mohammed
Institution: Ministry of Education
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415104583
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