Abstract
BackgroundBeta 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.MethodsThe 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.ResultsOne 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).ConclusionEndocrine 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.
Highlights
Beta thalassemia major (TM) is an autosomal recessive inherited disorder caused by decreased or absent β-globin chain production
We found poor compliance with iron chelating agents, in which 19 of 28 (67.86%) in the endocrine disorder group received less than 50% of the calculated doses per month, compared with 41 of 92 (44.57%) in the non-endocrine disorder group
We recommended that endocrine evaluation in thalassemic patients be carried out routinely, even at a younger age, especially in patients with iron overload and poor compliance with chelating therapy, for glucose homeostasis, hypothyroidism, and hypoparathyroidism
Summary
Beta thalassemia major (TM) is an autosomal recessive inherited disorder caused by decreased or absent β-globin chain production. TM is the most common chronic hemolytic anemia in Egypt. It constitutes a major health problem with an estimated carrier rate of 9–10% [3]. 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 multitransfused TM receiving iron chelation therapy
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