beta-thalassemia

Beta-thalassemia is a blood disorder characterized by a deficiency in hemoglobin, the protein responsible for oxygen transport in the blood. This condition arises from genetic defects in the synthesis of the polypeptide chains that make up hemoglobin. Specifically, in beta-thalassemia, the production of beta-globin chains is impaired, leading to an imbalance in hemoglobin synthesis.1

This imbalance results in the ineffective production of red blood cells, a condition known as anemia. Individuals with beta-thalassemia may experience mild anemia (thalassemia minor) or severe anemia (thalassemia major, also called Cooley anemia). Symptoms of thalassemia major can include severe anemia, enlarged spleen and liver, and bone deformities. In 2023, a gene-editing therapy using CRISPR technology was approved to treat beta-thalassemia by restoring normal hemoglobin production.1