ORIGINAL PAPER
Endocrine dysfunction in children with transfusion-dependent thalassemia major: a cross-sectional study
1
Department of Pediatrics, Uttar Pradesh University of Medical Sciences, Saifai, Etawah, Uttar Pradesh, India
2
K.M. Medical College and Hospital, Mathura, Uttar Pradesh, India
3
S.N. Medical College, Agra, Uttar Pradesh, India
These authors had equal contribution to this work
Submission date: 2026-02-25
Final revision date: 2026-05-23
Acceptance date: 2026-05-25
Online publication date: 2026-09-23
Publication date: 2026-10-07
Corresponding author
Pediatr Pol 2026;101(3):262-269
KEYWORDS
TOPICS
ABSTRACT
Introduction:
Thalassemia major is the most common inherited anemia requiring lifelong transfusion support. While transfusions improve survival, iron overload from repeated transfusions predisposes patients to multi-organ damage, particularly endocrine dysfunction. This study aimed to evaluate the prevalence of endo- crinopathies in transfusion-dependent thalassemia major and their correlation with serum ferritin levels.
Material and methods:
A cross-sectional study was conducted among 67 children (< 18 years) with confirmed transfusion-dependent β-thalassemia major attending a tertiary care centre. Clinical examination, anthropometry, and biochemical evaluation including thyroid profile, parathyroid hormone, calcium, fasting and postprandial glucose, and serum ferritin were performed. Endocrine dysfunctions were defined using standard diagnostic criteria. Statistical analysis was carried out using Pearson correlation, χ2, and ANOVA tests.
Results:
The mean age of participants was 7.7 ±3.7 years. Short stature was observed in 74.6% of children, and 46.3% had at least one endocrine abnormality. Primary hypothyroidism and altered glucose tolerance each were present in 20.9%, while hypoparathyroidism was noted in 16.4%. Mean serum ferritin was 2676.7 ±1165.5 ng/ml. Serum ferritin showed a significant positive correlation with age, transfusion burden, duration of chelation therapy, glucose parameters, liver enzymes, hepatosplenomegaly, blood urea, and TSH (p < 0.05), but not with T3, T4, parathyroid hormone, or growth hormone. Endocrine abnormalities were significantly more frequent in patients with poor compliance to chelation therapy (61.9% vs. 20%, p = 0.001).
Conclusions:
In this cross-sectional study, endocrine abnormalities were identified in 46.3% of transfusion- dependent thalassemia major patients, with a higher prevalence observed among those reporting irregular chelation adherence. Serum ferritin levels were significantly associated with thyroid function and glucose tolerance. These findings underscore the relevance of routine endocrine evaluation and assessment of chelation adherence in this population. However, the cross-sectional nature of the study limits interpretation to associations, and no causal relationships or long-term prognostic implications can be inferred.
Thalassemia major is the most common inherited anemia requiring lifelong transfusion support. While transfusions improve survival, iron overload from repeated transfusions predisposes patients to multi-organ damage, particularly endocrine dysfunction. This study aimed to evaluate the prevalence of endo- crinopathies in transfusion-dependent thalassemia major and their correlation with serum ferritin levels.
Material and methods:
A cross-sectional study was conducted among 67 children (< 18 years) with confirmed transfusion-dependent β-thalassemia major attending a tertiary care centre. Clinical examination, anthropometry, and biochemical evaluation including thyroid profile, parathyroid hormone, calcium, fasting and postprandial glucose, and serum ferritin were performed. Endocrine dysfunctions were defined using standard diagnostic criteria. Statistical analysis was carried out using Pearson correlation, χ2, and ANOVA tests.
Results:
The mean age of participants was 7.7 ±3.7 years. Short stature was observed in 74.6% of children, and 46.3% had at least one endocrine abnormality. Primary hypothyroidism and altered glucose tolerance each were present in 20.9%, while hypoparathyroidism was noted in 16.4%. Mean serum ferritin was 2676.7 ±1165.5 ng/ml. Serum ferritin showed a significant positive correlation with age, transfusion burden, duration of chelation therapy, glucose parameters, liver enzymes, hepatosplenomegaly, blood urea, and TSH (p < 0.05), but not with T3, T4, parathyroid hormone, or growth hormone. Endocrine abnormalities were significantly more frequent in patients with poor compliance to chelation therapy (61.9% vs. 20%, p = 0.001).
Conclusions:
In this cross-sectional study, endocrine abnormalities were identified in 46.3% of transfusion- dependent thalassemia major patients, with a higher prevalence observed among those reporting irregular chelation adherence. Serum ferritin levels were significantly associated with thyroid function and glucose tolerance. These findings underscore the relevance of routine endocrine evaluation and assessment of chelation adherence in this population. However, the cross-sectional nature of the study limits interpretation to associations, and no causal relationships or long-term prognostic implications can be inferred.
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