Understanding the Endocrine Consequences of Transfusion-Dependent Thalassemia: A Detailed Exploration of Key...

Children with transfusion-dependent thalassemia (TDT) often face various endocrine complications from iron overload, extramedullary hematopoiesis, and bone marrow expansion, influenced by genetic and non-genetic factors like blood transfusions and iron chelation. This study aims to evaluate the interplay between genetic predisposition, iron overload, and endocrine dysfunction. This was a prospective cross-sectional study including children ≥ 6 year age with TDT. Hospital records were analyzed to collect patient information, blood transfusion requirements, type and duration of chelation therapy. All patients underwent estimation of serum ferritin, glucose, calcium, phosphate, alkaline phosphatase (ALP), paratharmone (PTH), vitamin D, and free T4/ thyroid stimulating hormone (TSH), whereas peripubertal children also underwent luteinizing hormone (LH), follicle stimulating hormone (FSH), estrogen, and testosterone. Only those suspected of having central cause of endocrine complications underwent growth hormone estimation. Various endocrine abnormalities were observed across 83 children (63males, 20females; aged6-20 years). Elevated mean serum ferritin levels > 3500 ng/ml was associated with increased prevalence of hypogonadism, growth retardation, hypothyroidism, impaired glucose tolerance, and hypoparathyroidism with p-values of 0.005, < 0.001, 0.02, 0.04, and 0.05, respectively. Children with β0β0 genotype had higher incidence of growth retardation (p = 0.03) and hypoparathyroidism (p = 0.02). Starting chelation therapy after 2years age resulted in hypogonadism(p = 0.003) and short stature(p = 0.04), while hypothyroidism(p = 0.04) was more prevalent in those who began transfusions after 2years age. Receiving over 20 transfusion units per year significantly resulted in glucose intolerance(p = 0.00) and osteopenia(p = 0.03). This study highlights the prevalence as well as multifactorial influences on endocrine complications in TDT, emphasizing the need for targeted interventions to improve patient outcomes.