From the Guidelines
Thalassemia patients should receive regular blood transfusions every 2-4 weeks to maintain adequate hemoglobin levels, accompanied by iron chelation therapy using medications like deferasirox, deferiprone, or deferoxamine to prevent iron overload, as recommended by the most recent guidelines 1.
Treatment Overview
Thalassemia is an inherited blood disorder characterized by reduced or abnormal production of hemoglobin, leading to anemia. It comes in two main forms: alpha and beta thalassemia, with severity ranging from mild to life-threatening.
- Treatment depends on the type and severity, with mild forms often requiring no intervention beyond occasional monitoring.
- For moderate to severe cases, regular blood transfusions are the primary treatment, typically needed every 2-4 weeks to maintain adequate hemoglobin levels.
- These transfusions must be accompanied by iron chelation therapy using medications like deferasirox (Exjade, Jadenu), deferiprone (Ferriprox), or deferoxamine (Desferal) to prevent iron overload, which can damage organs, as supported by a study published in Blood 1.
Management of Complications
- Folic acid supplements (1 mg daily) are often recommended to support red blood cell production.
- For the most severe cases, bone marrow transplantation, also known as hematopoietic stem cell transplantation, offers a potential cure but carries significant risks and requires a compatible donor, with current experience showing that more than 90% of patients now survive hematopoietic stem cell transplantation and disease-free survival is around 80% 1.
- Genetic counseling is essential for affected individuals and carriers planning families, as the condition is passed from parents to children.
- Regular monitoring of organ function, particularly the heart and liver, is crucial for patients receiving ongoing transfusions to detect complications early, including the risk of chronic viral hepatitis, which requires careful management and monitoring, as outlined in a study published in Blood 1.
From the Research
Overview of Thalassemia
- Thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen to the body's tissues 2, 3, 4, 5, 6.
- The disease can cause a range of health problems, including anemia, fatigue, and increased risk of infections 2, 3, 4, 5, 6.
Iron Overload and Chelation Therapy
- Regular red cell transfusions used to treat thalassemia can cause iron loading, which must be treated with chelation therapy 2, 3, 4, 5.
- Chelation therapy removes accumulated iron and detoxifies iron, preventing and reversing iron-mediated organ injury 2, 3, 4, 5.
- Three chelators are commercially available: deferoxamine, deferasirox, and deferiprone, which can be used as monotherapy or in combination 2, 3, 4, 5.
Challenges of Blood Transfusions in Thalassemia
- Patients with β-thalassemia major require regular blood transfusions, supported by appropriate iron chelation therapy, throughout their life 6.
- Many patients with β-thalassemia have limited access to regular and safe blood transfusions, due to a lack of voluntary nonremunerated blood donors, poor awareness of thalassemia, and inadequate national blood policies 6.
- Increased awareness, training, and resources are required to improve and standardize adequate blood transfusion services and iron chelation therapy among the worldwide population of patients with β-thalassemia 6.
Treatment and Management
- Close monitoring of hepatic and cardiac iron burden is central to tailoring chelation therapy 2, 3, 4, 5.
- The proper use of the three chelators will improve the prevention and treatment of iron overload, reduce complications, and improve survival and quality of life of transfused patients 4.
- Effective, safe, and affordable new treatments that reduce the blood transfusion burden in patients with β-thalassemia remain an unmet need 6.