Endocrine dysfunction in homozygous beta-thalassemia: An underrecognized and undertreated consequence of prolonged survival.

Abstract

The increasing longevity of patients with transfusion-dependent homozygous beta-thalassemia has brought endocrine complications to the forefront of long-term care. While iron overload remains a central mechanism, additional contributors such as hypothalamic dysfunction, neurosecretory disturbances, and chronic inflammation have been identified. Endocrine disorders including hypothyroidism, adrenal insufficiency, hypogonadotropic hypogonadism, hypoparathyroidism, osteoporosis, and growth axis impairment - are prevalent and often underdiagnosed. Diagnostic challenges include normal hormone levels in early stages, necessitating the use of dynamic endocrine testing and pituitary magnetic resonance imaging to detect subclinical dysfunction. Risk is modulated by sex, age, and chelation adherence. Early identification and proactive, multidisciplinary management of endocrine sequelae are essential in reducing morbidity and maintaining functional independence in this aging patient population.