HEMATOLOGICAL AND BONE METABOLISM ABNORMALITIES IN CHILDREN AND ADOLESCENTS WITH Β-THALASSEMIA MAJOR

Abstract

β-thalassemia major (TM) is a transfusion-dependent hemoglobinopathy characterized by ineffective erythropoiesis and progressive iron accumulation. Despite improvements in transfusion and chelation regimens, metabolic bone disease remains a common and debilitating complication in young patients. To evaluate hematological indices and biochemical markers of bone metabolism in children and adolescents (≤21 years) with β-thalassemia major attending the Pediatric Department at the National Oncology Center, Aden, during January–December 2022. A cross-sectional analytical study of 40 transfusion-dependent TM patients was performed. Patients underwent complete blood counts and biochemical testing including serum ferritin, 25-OH vitamin D, parathyroid hormone (PTH), calcium and phosphorus. Descriptive statistics and categorical distributions versus reference ranges were analyzed. The cohort demonstrated severe chronic anemia (mean Hb 6.72 ± 1.77 g/dL; mean Hct 21.7 ± 6.1%) with microcytosis (mean MCV 73.5 ± 6.54 fL) and marked anisocytosis (RDW-CV 21.61 ± 7.00%). Median leukocyte count was 10.8 ×10³/µL with 60% of patients exhibiting leukocytosis; mean platelet count was increased (463.47 ± 281.4 ×10³/µL). Iron overload was profound (mean serum ferritin 3718.9 ± 2453.8 ng/mL), with 92.5% of patients above the normal ferritin range and 77.5% classified as high or severe (≥2000 ng/mL). Vitamin D insufficiency/deficiency was highly prevalent (mean 25-OH vitamin D 23.85 ± 9.96 ng/mL; 47.5% deficient, 27.5% insufficient, 25% adequate). Biochemical evidence of disturbed mineral homeostasis included hypocalcemia in 55% of patients, low PTH in 40%, and hyperphosphatemia in 45%. Together, these findings indicate a strong association between iron overload, endocrine dysfunction, and impaired bone mineral metabolism. Children and adolescents with β-thalassemia major in this cohort exhibit severe anemia, overwhelming iron accumulation, high prevalence of vitamin D deficiency, and frequent disturbances in calcium-phosphate-PTH axis—factors that collectively predispose to metabolic bone disease. Early, integrated strategies—including vigilant iron management, routine endocrine assessment, vitamin D optimization, and targeted bone health monitoring—are essential to mitigate long-term skeletal morbidity in this population.