Beta-thalassemia is a group of hereditary blood disorders characterized by anomalies in the synthesis of beta chains of hemoglobin, leading to variable phenotypes ranging from severe anemia to asymptomatic individuals. The annual incidence of symptomatic individuals is estimated at 1 in 100,000 worldwide and 1 in 10,000 in the European Union. Three main forms are described: thalassemia major, thalassemia intermedia, and thalassemia minor. Thalassemia major typically presents within the first two years of life with severe anemia requiring regular red blood cell (RBC) transfusions. Untreated or poorly transfused individuals may develop growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, and skeletal changes. Regular transfusion therapy leads to iron overload-related complications, including endocrine disorders, dilated myocardopathy, liver fibrosis, and cirrhosis. Thalassemia intermedia presents later in life with moderate anemia and may not require regular transfusions. Clinical features include hypertrophy of erythroid marrow, extramedullary hematopoiesis, osteoporosis, masses, and bone deformities. Thalassemia minor is clinically asymptomatic but some subjects may have mild anemia. Beta-thalassemias are caused by point mutations or deletions in the beta globin gene on chromosome 11, leading to reduced or absent beta chain synthesis. Diagnosis is based on hematologic and molecular genetic testing. Treatment for thalassemia major includes regular RBC transfusions, iron chelation, and management of iron overload complications. Bone marrow transplantation is the definitive cure. Thalassemia intermedia may require splenectomy, folic acid supplementation, and treatment of extramedullary erythropoiesis and leg ulcers. Prognosis has improved with recent medical advances, but cardiac disease remains the main cause of death in patients with iron overload.Beta-thalassemia is a group of hereditary blood disorders characterized by anomalies in the synthesis of beta chains of hemoglobin, leading to variable phenotypes ranging from severe anemia to asymptomatic individuals. The annual incidence of symptomatic individuals is estimated at 1 in 100,000 worldwide and 1 in 10,000 in the European Union. Three main forms are described: thalassemia major, thalassemia intermedia, and thalassemia minor. Thalassemia major typically presents within the first two years of life with severe anemia requiring regular red blood cell (RBC) transfusions. Untreated or poorly transfused individuals may develop growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, and skeletal changes. Regular transfusion therapy leads to iron overload-related complications, including endocrine disorders, dilated myocardopathy, liver fibrosis, and cirrhosis. Thalassemia intermedia presents later in life with moderate anemia and may not require regular transfusions. Clinical features include hypertrophy of erythroid marrow, extramedullary hematopoiesis, osteoporosis, masses, and bone deformities. Thalassemia minor is clinically asymptomatic but some subjects may have mild anemia. Beta-thalassemias are caused by point mutations or deletions in the beta globin gene on chromosome 11, leading to reduced or absent beta chain synthesis. Diagnosis is based on hematologic and molecular genetic testing. Treatment for thalassemia major includes regular RBC transfusions, iron chelation, and management of iron overload complications. Bone marrow transplantation is the definitive cure. Thalassemia intermedia may require splenectomy, folic acid supplementation, and treatment of extramedullary erythropoiesis and leg ulcers. Prognosis has improved with recent medical advances, but cardiac disease remains the main cause of death in patients with iron overload.