TURKISH JOURNAL OF PEDIATRICS, sa.1, ss.39-50, 2025 (SCI-Expanded)
Background. In transfusion-dependent forms of beta-thalassemia, chronic anemia and iron overload lead to the development of oxidative stress-related DNA damage. In beta-thalassemia minor (beta-Tm), oxidative stress resulting from an unbalanced globin chain ratio has been documented, even in the absence of anemia and its complications. However, the status of oxidative stress-related DNA damage has not yet been elucidated. The aim of this study was to assess DNA damage in beta-Tm in a pediatric population. Material and Methods. We compared 142 children with beta-Tm to 113 healthy controls, including siblings of the beta-Tm individuals. The comet assay was used to assess DNA damage in peripheral blood lymphocytes. Additionally, oxidative stress markers and biochemical parameters were measured. Results. No significant differences were observed between the beta-Tm group and controls in terms of demographics, biochemical parameters, or baseline oxidative stress levels (p>0.05). In the comet assay, there was no difference in tail intensity (TI) between subjects and controls, nor between siblings with and without beta-Tm (p=0.551 and p=0.655, respectively). However, when the beta-Tm group was divided by age, a gradual increase in DNA damage, as measured by TI, was observed. This increase was more pronounced in the beta-Tm group compared to controls. Conclusion. We observed no significant differences in DNA damage between beta-Tm individuals and controls. However, TI increased at a faster rate with age in carriers compared to non-carriers, suggesting that environmental factors might exert a more pronounced influence on the genetic integrity of individuals with a beta-Tm background. Although beta-Tm itself does not seem to pose a substantial genotoxic risk in childhood, our findings underscore the importance of further research into the interplay between beta-Tm and other risk factors throughout life. We advocate for long-term monitoring of beta-Tm children to assess the health and potential genetic consequences.