Endocrine complications of β-Thalassemia Major: Insights into the Diagnostic Role of Hepcidin Gene Expression

Endocrine dysfunction is a significant complication in adults with β-thalassemia major (BTM) affecting their quality of life especially fertility, metabolism, and growth, primarily driven by iron overload and secondary hemosiderosis of endocrine organs e.g. pituitary and thyroid glands. Among emerging biomarkers, circulatory mRNA expression of the hepcidin gene in peripheral blood has gained attention due to its regulatory role in iron homeostasis. This mini review explores current evidence supporting hepcidin mRNA as a non-invasive biomarker (instead of the commonly used nonspecific serum ferritin) for predicting pituitary-gonadal-thyroid axis impairment in BTM, with a focus on findings from recent clinical research including cross-sectional data demonstrating its diagnostic value. The review summarizes mechanistic insights, diagnostic performance, and clinical implications of integrating hepcidin expression into routine endocrine assessment of β- thalassemia major patients for hemosiderosis induced endocrinal dysfunction in order to allow appropriate follow up, definitive intervention and improvement of quality of life of those patients.