Abstract:
ABSTRACT Background: Thalassemia major is one of the most common hereditary hemoglobinopathies worldwide, characterized by ineffective erythropoiesis and chronic hemolytic anemia. Regular blood transfusions, though life-saving, result in progressive iron overload affecting various organs including the endocrine glands. Despite advances in iron chelation therapy, endocrinopathies remain a significant cause of morbidity in thalassemia major patients.
Objective: To study the endocrine manifestations in children and adolescents with thalassemia major and to identify associated risk factors.
Methods: This study included 51 children and adolescents with thalassemia major attending the thalassemia clinic. Detailed history, anthropometric assessment, clinical examination, and laboratory investigations including complete blood count, serum ferritin, glucose parameters (FBS, PPBS, RBS, HbA1c), thyroid function tests (T3, T4, TSH), serum calcium, and gonadotropin levels (LH, FSH) were performed.
Results: The study population comprised 58.8% males and 41.2% females, with 62.7% aged 5 10 years. 74.5% had initiated transfusions before one year of age, and 88.2% received monthly transfusions. Growth retardation was evident with 23.5% having weight and 29.4% having height below the 3rd centile. Endocrine abnormalities included diabetes (25.5%), pre-diabetes (33.3%), hypothyroidism (9.8%), hypogonadotropic hypogonadism (25% with low LH and 12.5% with low FSH), and hypocalcemia (21.6%). Serum ferritin was elevated (>1500 ng/mL) in 90.2% of patients. Significant associations were observed between HbA1c levels and chelation therapy (p=0.005).
Conclusion: Endocrine complications are common in pediatric thalassemia major patients, with glucose metabolism abnormalities being the most prevalent. Age, transfusion burden, and chelation therapy significantly influence the risk of endocrinopathies. Regular monitoring of endocrine function and appropriate intervention are essential for improving quality of life and reducing morbidity in these patients.
