Adrenal insufficiency is prevalent in HbE/β‐thalassaemia paediatric patients irrespective of their clinical severity and transfusion requirement

Abstract

This is the first study to show that adrenal insufficiency is common among all children with HbE/β-thalassaemia, irrespective of their transfusion history or requirement. Our findings have important implications for the clinical management of these children.

When to consider transfusion therapy for patients with non‐transfusion‐dependent thalassaemia

“…Endocrine problems are well characterized in patients with TDT as a consequence of transfusion‐related iron overload. However, the prevalence of adrenal insufficiency in children with HbE/β‐thalassaemia was recently found to be 50% for transfusion‐dependent patients and 53·5% for non‐transfusion‐dependent patients . It was also recently shown that vitamin D deficiency was significantly more common in children with non‐transfusion‐dependent HbE/β‐thalassaemia than those with transfusion dependency (33·3% vs. 12·2%, P = 0·01) .…”

Early development of decreased β‐cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia

“…However, even though they receive less blood transfusion, patients with NTDT develop iron overload secondary to hepcidin suppression, which leads to increased uptake of dietary iron from the gastrointestinal tract, and they are generally regarded as being at lower risk for developing endocrinopathies compared with those with TDT . However, our group recently found and reported that endocrinopathies, such as adrenal insufficiency, vitamin D insufficiency, and low bone mass, 17 are common among children and adolescents with NTDT. From these studies, we concluded that anemia plays a more harmful role than iron overload to the development of endocrinopathies among young patients with NTDT.…”

Adrenal insufficiency in non‐transfusion‐dependent α‐thalassemia

“…One study by Poomthavorn et al ., however, noted a prevalence of AI of 56% in patients with β‐thalassemia major who underwent regular blood transfusion, when assessed on 1 μg adrenocorticotropic hormone (ACTH) stimulation test, and this proportion decreased by approximately 10% after ITT confirmation . Although transfusion dependence is believed to be a cause of AI in patients with thalassemia, one previous study reported no significant difference in the prevalence of AI in transfusion‐dependent and non‐transfusion‐dependent (NTD) β‐thalassemia …”

“…Biochemical adrenal insufficiency (AI) is a widely recognized potential complication in thalassemia major patients undergoing regular blood transfusion. Previous studies have reported prevalence rates of biochemical AI in thalassemia ranging from 2% to 53% . Most of these studies were conducted in thalassemia major patients, especially β‐thalassemia.…”

“…Patients with subnormal cortisol response from these two groups subsequently underwent 250 μg ACTH stimulation test, and the percentage of primary AI in the TDT and NTDT groups was 23.5% and 39%, respectively. No factors that predict the development of AI were identified …”