Beta thalassemia is a rare, inherited blood disorder characterized by the reduced production of hemoglobin in the body, leading to a shortage of mature red blood cells and resulting in anemia, a condition that develops when the body does not receive enough oxygen-rich blood.
Beta thalassemia is caused by a defect in the hemoglobin beta (HBB) gene. The HBB gene provides instructions for making a protein called beta-globin, which is a component of the larger protein called hemoglobin that carries oxygen in the red blood cells.
Common symptoms of anemia include weakness, paleness, tiredness, and shortness of breath. Severe anemia can be debilitating and it can lead to further complications and serious health issues if left untreated.
Treatment for anemia associated with beta thalassemia consists mainly of red blood cell transfusions.
Reblozyl (luspatercept-aamt) is FDA-approved for the treatment of anemia in adult patients with beta thalassemia who require regular red blood cell transfusions. Reblozyl works as an erythroid maturation agent to regulate late-stage red blood cell maturation, which helps to reduce the red blood cell transfusion burden.
Zynteglo (betibeglogene autotemcel) is an FDA-approved gene therapy for the treatment of adult and pediatric patients with beta-thalassemia who require regular red blood cell transfusions. Zynteglo works by adding functional copies of a modified form of the beta-globin gene into a patient’s own blood stem cells to enable the production of a modified functional hemoglobin, eliminating the need for regular red blood cell transfusions.
