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β-Thalassemia

  • β (beta)-thalassemia is a genetic disease characterized by reduced or absent production of functional β-globin, a key component of adult hemoglobin, which carries oxygen to all parts of the body. Lack of sufficient β-globin leads to chronic anemia and other serious complications.
    • Transfusion-dependent β-thalassemia (TDT) is a severe, progressive type of β-thalassemia characterized by severe anemia, lifelong transfusion dependence, unavoidable iron overload, serious comorbidities, and shorter lifespan compared with the general population.
  • Patients with TDT require lifelong supportive care with regular blood transfusions—typically given every 2 to 5 weeks—to mitigate anemia and enable survival.
    • Chronic transfusions lead to unavoidable iron overload that can result in significant damage to vital organs. Therefore, patients with TDT need continuous and rigorous monitoring of iron burden and must regularly take medications to remove excess iron, a process called iron chelation.
  • Bone marrow transplant using cells from a healthy donor (allogeneic hematopoietic stem cell transplant or allo-HSCT) is currently the only available treatment option with the potential to correct the genetic deficiency in TDT, leading to transfusion independence and thalassemia-free survival.
    • While potentially curative, allo-HSCT is associated with a risk of transplant-related mortality and graft failure, and severe immunological complications such as graft versus host disease (GVHD). The best outcomes are achieved in pediatric patients with a matched sibling donor. Many patients with TDT are not considered optimal candidates for allo-HSCT due to lack of donor match, disease complications, and/or age.
  • Advances in supportive care with transfusion and chelation have improved the prognosis of patients with TDT in recent decades; however, many patients with TDT experience serious complications and organ damage due to underlying disease and iron overload, and compliance with chelation remains an issue. Consequently, quality of life (QoL) and survival for patients with TDT are lower than the general population.

You can find more information about BMT and β-thalassemia by visiting patient resources.