Detection of endocrine disorders in young children with multi-transfused thalassemia major

• Published in: Italian journal of pediatrics Vol. 47; no. 1; p. 165
• Main Authors: Mahmoud, Ramadan A, Khodeary, Ashraf, Farhan, Marwa S
• Format: Journal Article
• Language: English
• Published: England BioMed Central 31-07-2021; BMC
• Subjects: Age; Anemia; Automation; beta-Thalassemia - drug therapy; beta-Thalassemia - epidemiology; Blood diseases; Blood transfusions; Body mass index; Chelating agents; Chelation; Chelation therapy; Child; Child Nutrition Disorders; Child, Preschool; Consanguinity; Cross-Sectional Studies; Diabetes; Diabetes mellitus; Drug Therapy, Combination; Endocrine disorders; Endocrine System Diseases - epidemiology; Families & family life; Family medical history; Fasting; Female; Ferritin; Ferritins - blood; Gene expression; Genetic disorders; Glucose; Glucose tolerance; Hemoglobin; Homeostasis; Humans; Hypocalcemia; Hypoparathyroidism; Hypothyroidism; Infant; Iron; Iron chelating agent; Iron Chelating Agents - therapeutic use; Laboratories; Male; Males; Malnutrition; Overweight; Parathyroid; Patient Compliance; Patients; Phosphatase; Prevalence; Risk factors; Standard deviation; Thalassemia; Thalassemia major; Thyroid; Thyroid diseases; Thyroid gland; Young children; Egypt; Endocrine disorders; Young children; Thalassemia major; Iron chelating agent
• ISSN: 1824-7288; 1720-8424; 1824-7288
• DOI: 10.1186/s13052-021-01116-2

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.
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.
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).
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.