Framework for the comprehensive screening for endocrine disorders in patients with transfusion-dependent thalassemia in low-resource settings
Document Type
Review Article
Department
Medical College Pakistan; Medicine; Paediatrics and Child Health; Pathology and Laboratory Medicine
Abstract
Despite advances in managing transfusion-dependent thalassemia (TDT), endocrine complications continue to be a major concern, especially in low-resource settings where delayed diagnosis and inadequate screening lead to higher morbidity. This study aims to develop a practical, evidence-based framework for screening endocrine and metabolic disorders in TDT patients aged 1-16 years in resource-limited environments. Five major guidelines were reviewed, including those from the Thalassemia International Federation (2025), UK Thalassemia Standards (2023), Italian Society for Thalassemia (2022), International Network on Endocrine Complications in Thalassemia (2013), and Oakland Children's Hospital (2012). A multidisciplinary panel of experts analyzed these guidelines along with local data to create a structured screening approach. Local literature highlights significant endocrine challenges, including stunted growth (50.5%, 95% CI: 29.6-71.4) and hypogonadism or delayed puberty (45.8%, 95% CI: -6.5-98.2). Less common issues include hypothyroidism (19.9%), hypoparathyroidism (12.8%), and impaired glucose metabolism (5.0%). A comparative analysis reveals that all guidelines emphasize the importance of clinical evaluation and laboratory testing. However, there are variations in testing panels and screening protocols. The proposed framework highlights clinical assessment as the first step, followed by targeted laboratory testing when resources are limited. Key recommendations include optimizing transfusion and iron chelation to reduce complications, as well as age-specific screening for early detection of endocrinopathies in patients with TDT. This consensus-based approach seeks to standardize endocrine screening for TDT patients, promoting early intervention and referral. Successful implementation will involve training healthcare providers to improve thalassemia care in low-resource settings
Publication (Name of Journal)
Annals of hematology
DOI
10.1007/s00277-025-06577-7
Recommended Citation
Abbas, S.,
Khan, M. O.,
Arif, A.,
Majid, H.,
Jafri, L.,
Shaikh, A.,
Humayun, K.,
Habib, A.,
Moiz, B.
(2025). Framework for the comprehensive screening for endocrine disorders in patients with transfusion-dependent thalassemia in low-resource settings. Annals of hematology, 104(9), 4391-4409.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_mc/546