Beta-thalassemia is an inherited red blood cell disorder caused by mutations in and around the β-globin gene and characterized by reduced or absent β-globin chain synthesis, decreased hemoglobin in the blood, and reduced red blood cell production.1-4 Loss of β-globin results in a toxic accumulation of the α-globin protein in developing erythrocytes, which leads to ineffective erythropoiesis and the development of moderate to severe anemia.2,3,5 Patients with beta-thalassemia major typically present with clinical symptoms by 2 years of age and require red blood cell transfusions to survive; however, regular transfusions may lead to iron overload and potentially life threatening complications, such as cardiomyopathy, endocrine dysfunction, and liver disease.1,3,6 Patients with beta-thalassemia intermedia have mild to moderate anemia and may have several comorbidities including pulmonary hypertension, thrombotic events, splenomegaly, and leg ulcers.1,3
Beta-Thalassemia Mechanism of Disease
Beta-thalassemia is an inherited genetic disease characterized by ineffective erythropoiesis.
The safety and efficacy of the agents and/or uses under investigation have not been established. There is no guarantee that the agents will receive health authority approval or become commercially available in any country for the uses being investigated