Volume 31, Issue 4 (Avicenna Journal of Clinical Medicine-Winter 2025)                   Avicenna J Clin Med 2025, 31(4): 255-263 | Back to browse issues page

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Miri-Aliabad G. Beta Thalassemia: An Overview of Epidemiology, Clinical Features, Diagnosis, and Management. Avicenna J Clin Med 2025; 31 (4) :255-263
URL: http://sjh.umsha.ac.ir/article-1-3149-en.html
Beta Thalassemia: An Overview of Epidemiology, Clinical Features, Diagnosis, and Management
Ghasem Miri-Aliabad
Department of Pediatrics, Ali Asghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran , ghmiri1357@gmail.com
Abstract:   (1356 Views)
Introduction: Thalassemia is an inherited blood disorder with an autosomal recessive inheritance pattern caused by the reduced or absent production of globin chains. Beta-thalassemia results from mutations in the beta-globin gene, where the reduction or absence of beta-globin chains leads to ineffective erythropoiesis and anemia. Approximately 1.5% of the global population carries the beta-thalassemia gene. The disease is classified into three types: minor, intermediate, and major. Beta-thalassemia major is the most severe form, where patients require regular blood transfusions for survival. Frequent transfusions result in iron overload, which deposits in various organs and causes various complications, such as liver damage, cardiomyopathy, hypothyroidism, hypoparathyroidism, diabetes, adrenal insufficiency, hypogonadism, and growth disorders.
Beta-thalassemia can be diagnosed through genetic testing, complete blood count (CBC), and peripheral blood smear. Beta-thalassemia minor does not require treatment. However, the management of beta-thalassemia intermediate includes periodic blood transfusions, folic acid supplementation, hydroxyurea, and in some cases, splenectomy. Treatment for beta-thalassemia major involves regular blood transfusions, iron chelation therapy, stimulation of fetal hemoglobin production, hematopoietic stem cell transplantation, and gene therapy.
Conclusion: Beta-thalassemia is a significant health concern, particularly in regions with a high prevalence of carriers. Prevention through carrier screening, genetic counseling, and prenatal diagnosis plays a crucial role in reducing the incidence of new and severe cases of the disease
Keywords: Anemia, Beta Thalassemia, Blood Transfusion, Gene Therapy, Iron Chelation, Iron Overload, Splenectomy
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Subject: Pediatrics (all specialties)
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