What is the primary treatment for beta thalassemia major?

From the Guidelines

The primary treatment for beta thalassemia major is hematopoietic stem cell transplantation (HSCT) from an HLA-identical sibling donor or a well-matched related or unrelated donor, as soon as possible to avoid transfusion-associated complications, as it offers a potential cure with a 20-year probability of thalassemia-free survival of 73%. This approach is supported by a study published in Haematologica in 2014 1, which reported the results of over 900 consecutive unselected patients transplanted from an HLA-identical sibling donor.

Some key points to consider when evaluating HSCT for beta thalassemia major include:

• The currently accepted indication for allogeneic HSCT is transfusion dependency, and it is recommended to perform the transplant as soon as possible to avoid transfusion-associated complications 1.
• The risk factors for transplant-related complications include age and organ dysfunction due to iron overload, highlighting the importance of careful patient selection and modern transplantation approaches 1.
• Alternative effective medical therapy, such as life-long transfusion with chelation, is available, but HSCT remains the only available curative approach for beta thalassemia major, particularly in a global setting where access to optimal conventional medical therapy and gene therapy may be limited 1.

In addition to HSCT, other treatments such as regular blood transfusions and iron chelation therapy may be necessary to manage the disease, but HSCT is the primary treatment that offers a potential cure. It is essential to carefully evaluate the role of HSCT in the treatment of beta thalassemia major, considering the availability of optimal conventional medical therapy and the prospect of gene therapy, which may become available in the future 1.

From the FDA Drug Label

The primary efficacy study, Study 1 (NCT00061750), was a multicenter, open-label, randomized, active-comparator control study to compare deferasirox tablets for oral suspension and deferoxamine in patients with beta-thalassemia and transfusional hemosiderosis Patients greater than or equal to 2 years of age were randomized in a 1:1 ratio to receive either oral deferasirox tablets for oral suspension at starting doses of 5,10,20, or 30 mg per kg once daily or deferoxamine at starting doses of 20 to 60 mg per kg for at least 5 days per week based on LIC at baseline

The primary treatment for beta thalassemia major is blood transfusions and iron chelation therapy.

• Deferasirox and deferoxamine are examples of iron chelation therapies used to reduce iron overload in patients with beta thalassemia major 2.
• The starting dose of deferasirox is recommended to be 20 mg per kg per day.
• Deferoxamine is typically administered at a dose of 20 to 60 mg per kg for at least 5 days per week.

From the Research

Beta Thalassemia Major Treatment

The primary treatment for beta thalassemia major includes:

• Regular blood transfusions to increase red blood cell count and reduce anemia symptoms 3
• Iron chelation therapy to remove excess iron from the body and prevent organ damage 4, 5, 6
• Bone marrow transplantation or hematopoietic stem cell transplantation to replace the defective bone marrow with healthy functioning marrow 3
• Stimulation of fetal hemoglobin production to increase the production of healthy red blood cells 3
• Gene therapy to correct the genetic defect causing beta thalassemia major 3

Iron Chelation Therapy

Iron chelation therapy is a crucial component of beta thalassemia major treatment, and it involves:

• Using chelating agents such as deferoxamine, deferasirox, and deferiprone to remove excess iron from the body 4, 5, 6
• Monitoring iron levels and adjusting chelation therapy accordingly to prevent organ damage 4, 5, 6
• Using combination chelation therapy for patients with high iron burden or iron-related organ injury 6

Challenges in Beta Thalassemia Major Treatment

Despite the availability of effective treatments, beta thalassemia major patients still face challenges, including:

• Limited access to safe and regular blood transfusions, particularly in resource-poor countries 7
• Inadequate iron chelation therapy, which can lead to preventable morbidity and mortality 5
• Risk of transfusion-transmitted infections and alloimmunization due to inadequate blood screening and safety practices 7