Beta Thalassemia: An Overview of Epidemiology, Clinical Features, Diagnosis, and Management

Abstract

Background and Objective: 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.