Beta-thalassemia

Beta-thalassemia

2010 | Renzo Galanello* and Raffaella Origa
Beta-thalassemia is a hereditary blood disorder characterized by reduced or absent synthesis of beta-globin chains in hemoglobin, leading to anemia. It is classified into three main forms: thalassemia major, intermedia, and minor. Thalassemia major is severe, requiring regular red blood cell (RBC) transfusions and leading to iron overload complications such as endocrine issues, heart disease, and liver damage. Thalassemia intermedia is less severe, with moderate anemia and no regular transfusions needed, but may require splenectomy, folic acid, and treatment of extramedullary erythropoietic masses. Thalassemia minor is usually asymptomatic but may cause mild anemia. The condition is autosomal recessive, with mutations in the beta-globin gene on chromosome 11. Diagnosis involves hematologic and molecular testing, and differential diagnosis includes other anemias. Genetic counseling and prenatal diagnosis are recommended. Treatment for major thalassemia includes RBC transfusions, iron chelation, and bone marrow transplantation. Thalassemia intermedia requires management of complications like leg ulcers and thrombosis. Iron overload is a major cause of mortality in thalassemia. The disease is prevalent in Mediterranean, Middle Eastern, and Asian regions. Management includes iron chelation, splenectomy, and lifestyle adjustments. Advances in treatment have improved prognosis, but iron overload remains a critical issue. Lifestyle and dietary considerations are generally not specific, but regular medical care is essential.Beta-thalassemia is a hereditary blood disorder characterized by reduced or absent synthesis of beta-globin chains in hemoglobin, leading to anemia. It is classified into three main forms: thalassemia major, intermedia, and minor. Thalassemia major is severe, requiring regular red blood cell (RBC) transfusions and leading to iron overload complications such as endocrine issues, heart disease, and liver damage. Thalassemia intermedia is less severe, with moderate anemia and no regular transfusions needed, but may require splenectomy, folic acid, and treatment of extramedullary erythropoietic masses. Thalassemia minor is usually asymptomatic but may cause mild anemia. The condition is autosomal recessive, with mutations in the beta-globin gene on chromosome 11. Diagnosis involves hematologic and molecular testing, and differential diagnosis includes other anemias. Genetic counseling and prenatal diagnosis are recommended. Treatment for major thalassemia includes RBC transfusions, iron chelation, and bone marrow transplantation. Thalassemia intermedia requires management of complications like leg ulcers and thrombosis. Iron overload is a major cause of mortality in thalassemia. The disease is prevalent in Mediterranean, Middle Eastern, and Asian regions. Management includes iron chelation, splenectomy, and lifestyle adjustments. Advances in treatment have improved prognosis, but iron overload remains a critical issue. Lifestyle and dietary considerations are generally not specific, but regular medical care is essential.
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