β-thalassemia is an inherited blood disease that can cause severe anemia, a condition where there are not enough healthy red blood cells in the blood. Healthy red blood cells use a protein called hemoglobin to carry oxygen throughout the body. Hemoglobin is made of four proteins, including β-globin. β-thalassemia is one of the most common genetic diseases in the world, and approximately 60,000 children are born every year with a serious form of the disease. Our research focuses on patients with the most severe form of the disease, transfusion-dependent β-thalassemia, in which patients cannot make enough, or any, of the β-globin part of hemoglobin. Transfusion-dependent β-thalassemia, also called β-thalassemia major or Cooley’s anemia, is fatal within the first few years of life if not treated.
Treatment of transfusion-dependent β-thalassemia includes frequent and lifelong blood transfusions, which deliver healthy red blood cells to the body to correct the anemia. However, blood transfusions can cause too much iron to build up in the body. Because iron build up cannot be eliminated naturally, accumulated iron can damage vital organs especially the heart and the liver – and cause additional issues, such as abdominal pain, weakness, fatigue and joint pain. Patients who receive ongoing blood transfusions must also take medicines to remove the excess iron. Those medicines, called iron chelation therapy, also have side effects and can negatively impact a patient’s quality of life.
Currently, the only curative treatment option for transfusion-dependent β-thalassemia is allogeneic hematopoietic stem cell transplant (HSCT, also called bone marrow transplant). The procedure works by transferring a donor’s stem cells into a patient’s body, where they produce a supply of new blood cells with functioning β-globin. However, there are risks associated with the transplant, including serious infection, graft failure and graft- versus-host-disease, some of which can be fatal, so transplants are primarily only offered to pediatric patients with matched sibling donors, which typically occurs in less than 25 percent of all patients. You can find more information on hematopoietic stem cell or bone marrow transplant on the National Bone Marrow Donor Program’s Be the Match website.
learn more about how stem cell transplant works
The following organizations offer resources and information for patients with transfusion-dependent β-thalassemia, their families and caregivers: