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Endocrinopathies in Turkish children with Beta thalassemia major: results from a single center study
Pamir Isik1, Nese Yarali, Betül Tavil
11Department of Pediatric Hematology, Ankara Children's Hematology and Oncology Hospital, Ankara, Turkey.
Insights
Endocrinological complications are common in beta-thalassemia major patients, impacting quality of life. Vitamin D deficiency and pubertal failure were the most frequent issues observed in this study.
Area of Science:
- Hematology
- Endocrinology
- Pediatrics
Background:
- Beta-thalassemia major is a chronic genetic blood disorder requiring lifelong management.
- Endocrinological complications significantly impact the quality of life for patients with beta-thalassemia major.
- Early identification and management of these complications are crucial for patient well-being.
Purpose of the Study:
- To evaluate the prevalence and types of endocrinological complications in pediatric patients with beta-thalassemia major.
- To assess the relationship between serum ferritin levels and the occurrence of endocrinological issues.
- To investigate pituitary magnetic resonance imaging (MRI) findings in relation to endocrinological dysfunction.
Main Methods:
- Retrospective analysis of 47 pediatric patients with beta-thalassemia major.
- Evaluation of clinical data, including age, sex, and serum ferritin levels.
- Assessment for various endocrinological pathologies, including vitamin D status, pubertal development, growth, bone mineral density, thyroid function, glucose metabolism, and pituitary MRI.
Main Results:
- Over half of the patients (57.4%) experienced at least one endocrinological complication, with 29.7% having multiple.
- Vitamin D insufficiency/deficiency (78.2%) was the most common complication, followed by pubertal failure (41.6%) and growth retardation (25.5%).
- No significant correlation was found between serum ferritin levels and the incidence or severity of endocrinological complications or pituitary abnormalities.
Conclusions:
- Beta-thalassemia major patients frequently develop significant endocrinological complications, notably vitamin D deficiency and pubertal failure.
- Current management strategies may not fully mitigate these endocrine issues, necessitating closer monitoring.
- A coordinated multidisciplinary approach involving hematology and endocrinology is essential for comprehensive care of beta-thalassemia major patients.
Abstract:
The endocrinological complications in β-thalassemia major patients do affect the life quality to a large extend. In this study, the endocrinological complications of 47 β-thalassemia patients, who have been followed-up at our hospital's pediatric hematology department, were evaluated. Out of β-thalassemia major cases included to this study, the 55.3% was male and 44.7% was female. The patients' mean levels of ferritin, whose mean age was 10.0 ± 4.5 years (2-20 years), were 2497 ± 1469 ng/mL (472-8558 ng/mL). At least one endocrinological pathology in 27 out of 47 (57.4%) and more than one endocrinological pathology in 14 out of 47 (29.7%) thalassemia patients were observed. The most frequently observed complication in followed-up cases was vitamin D insufficiency and deficiency (78.2%). The other complications in decreasing order were pubertal failure (41.6%), growth retardation (25.5%), decreased bone-mineral density (22.2%), secondary hyperparathyroidism (11.5%), overt hypothyroidism (4.25%), subclinical hypothyroidism (2.12%), and impaired glucose tolerance (2.12%). There was no statistically significant difference between serum mean ferritin level and endocrin complications (P > .05). Four patients (8.5%) had decreased signal intensity in pituitary magnetic resonance imaging (MRI) but this finding was not associated with ferritin levels (P = .87). MRI parameters were similar between patients with and without gonadal dysfunction. Mean height of the pituitary gland was 4.98 ± 1.1 mm (3-9 mm) and this was similar to those normal values in the literature. Ferritin levels were not correlated with pituitary height (P > .05). Beta thalassemia major, having the potential of leading to multisystemic complications, is a chronic disease that should be treated and followed-up by a multidisciplinary approach. Due to frequently encountered endocrinological complications, beta thalassemic patients should be followed-up regularly by hematology and endocrinology departments in coordination.
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