Endocrine and Biochemical Dysregulation in Beta-Thalassemia: Pathophysiology and Biomarkers

Abstract

This study assessed endocrine dysfunction in 34 transfusion-dependent beta-thalassemia patients (mean age 17.35±2 years) from Pakistan, where disease burden is high (5,000–9,000 annual births). All patients had severe iron overload (mean ferritin 12,617±4,959.63 ng/mL). Hormonal/metabolic profiling via CLIA revealed prevalent endocrinopathies, hypogonadism (67%) with male predominance (52% of total cohort), hypothyroidism (19%), and hypocalcemia/vitamin D deficiency (87%) (32.3% severe). Key correlations included strong LH-testosterone (r=0.924, p<0.001) and FSH-testosterone (r=0.634, p=0.004) associations, indicating primary gonadal failure, and an inverse fT4-calcium relationship (r=−0.366, p=0.043). Critically, ferritin showed no correlation with endocrine parameters (p>0.05). Findings highlight multifactorial endocrine complications beyond iron overload alone, underscoring the necessity for routine endocrine screening in thalassemia management.