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Detection of endocrine disorders in young children with multi-transfused thalassemia major
Ramadan A Mahmoud1, Ashraf Khodeary2, Marwa S Farhan3
1Department of Paediatrics, Faculty of Medicine, Sohag University, Sohag, 82524, Egypt. ramadan.aboelhassan@yahoo.com.
Insights
Beta thalassemia major patients face a high risk of endocrine disorders, with nearly a quarter affected by age 12. High ferritin levels and poor compliance increase risk, while combined iron chelation therapy shows promise.
Area of Science:
- Pediatrics
- Endocrinology
- Hematology
Background:
- Beta thalassemia major (TM) is a prevalent inherited blood disorder globally.
- Iron overload in TM patients can lead to significant tissue damage, including endocrine dysfunction.
- Early identification and management of endocrinopathies are crucial for improving patient outcomes.
Purpose of the Study:
- To determine the prevalence of endocrine disorders in multi-transfused TM patients aged 12 years or younger.
- To identify risk factors associated with endocrine disorders in this pediatric population.
- To evaluate the impact of iron chelation therapy on endocrine health.
Main Methods:
- A cohort of 120 pediatric TM patients (age ≤ 12 years) was assessed.
- Data collected included patient demographics, clinical examination, and iron chelating agent usage.
- Laboratory tests included serum ferritin, complete blood count, glucose homeostasis, and thyroid/parathyroid function.
Main Results:
- Endocrine disorders were present in 23.33% of patients, with hypothyroidism (9.17%) and glucose homeostasis abnormalities (7.5%) being most common.
- High serum ferritin levels (OR 0.98) and poor therapy compliance (OR 0.38) were significantly linked to increased endocrine disorders.
- Combined iron chelating agents reduced the prevalence of endocrine disorders compared to monotherapy (OR 0.40).
Conclusions:
- Endocrine disorders are common in young TM patients, affecting approximately one-fourth by age 12.
- Elevated serum ferritin and non-compliance with iron chelation therapy are key risk factors.
- Combined iron chelation therapy demonstrates a protective effect against endocrine complications in pediatric TM.
Background:
Beta thalassemia major (TM) is the most common inherited genetic disorder worldwide. Patients are at risk of iron overload, which leads to various forms of tissue damage, including endocrinopathies. The aim of this study was to evaluate the prevalence and risk factors of endocrine disorders in young patients with multi-transfused TM receiving iron chelation therapy.
Methods:
The inclusion criteria included all known cases of TM according to hemoglobin electrophoresis data, aged 12 years or younger, during the study period. The patient's age, gender, parent's consanguinity, clinical examination, and types of iron chelating agents used were recorded. Serum ferritin level, complete blood count (CBC), blood glucose homeostasis, thyroid, and parathyroid functions were determined.
Results:
One hundred twenty patients met the inclusion criteria; 70% of them had malnutrition. The presence of endocrine disorders was observed in 28/120 (23.33%) patients. The most common endocrine disorders were thyroid disorders, either subclinical or clinical hypothyroidism in 11/120 (9.17%) patients, followed by abnormalities in glucose homeostasis 9/120 (7.5%). The prevalence of impaired glucose tolerance, impaired fasting glucose, and diabetes mellitus in the present study was 5 (4.17%), 4 (3.33%), and 0 (00%), respectively, while the least frequent endocrine disorder seen in our patients was hypoparathyroidism in 8/120 (6.66%). We noted that high serum ferritin levels and poor patient compliance to therapy were significantly associated with increased endocrine disorders (OR 0.98, 95% CI 0.96-0.99, P = 0.003 and OR 0.38, 95% CI 0.16:0.93, P = 0.03, respectively). Combined chelating iron agents significantly decreased the prevalence of endocrine disorders when compared with monotherapy (OR 0.40, 95% CI 0.16:0.97, P = 0.04).
Conclusion:
Endocrine disorders could occur in TM patients early before or equal to 12 years of life in about one-fourth of the patients. A high serum ferritin level and poor patient compliance to therapy were significantly associated with increased endocrine disorders. Combined iron-chelating agents were associated with a decreased prevalence of endocrine disorders when compared with monotherapy.
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