Impact of Mineral Metabolism and Hormonal Dysregulation on Bone Health in β-Thalassemia Major: A Case–control Biochemical Study

BACKGROUND: β-thalassemia major (β-TM) is a genetic disorder characterized by excessive iron accumulation caused by continued blood transfusion, together with the development of chronic anaemia, which may also cause complications related to weakened bones. OBJECTIVES: The purpose of this research was to investigate and compare the concentration levels of different biochemical markers related to mineral metabolism; phosphate (PO4), calcium (Ca +2 ), vitamin D3 (VD3), and the hormonal markers related to bone metabolism; parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF-23) against those of healthy controls (HCs), as well as the levels of the biomarker used to evaluate the potential for iron overload; ferritin (FER) and the concentration of hemoglobin (Hb). MATERIALS AND METHODS: Between September 2024 and January 2025, at the Thi-Qar Centre for Genetic Disorders in Thi-Qar, Iraq, an investigation was carried out with a biochemical design as a case-control trial. The sample consisted of 50 β-TM patients matched on sex between the ages of 18-45 years, who were compared to 49 HCs (24 male, 25 female), and were between the ages of 18-49 years. The serum concentrations of the study biomarkers were assessed using either spectrophotometric or standardised immunoassays and analysed using either the Mann-Whitney U Test, Chi-Square, t -test or Spearman's correlation coefficient. RESULTS: There was a statistically significant ( P < 0.001) increase in FGF-23, PO4 and FER levels in patients compared to the healthy group with significantly decreased levels of VD3, Ca +2 , PTH and Hb. There was a very strong negative correlation between PTH and PO4 ( r = -0.93; P < 0.001) and a strong positive correlation between PTH and Ca 2+ ( r = 0.57; P < 0.001). FGF-23 levels were also elevated, yet there were no statistically significant correlations between FGF-23 and any of the other parameters included in this analysis. Therefore, it appears that FGF-23 is regulated in a different manner than the other biomarkers assessed in this study. CONCLUSIONS: Dysregulated levels of mineral and/or hormonal suggest decreased bone turnover in patients with β-TM.