From the Guidelines
The primary treatment for thalassemia is blood transfusions, which are the cornerstone therapy for moderate to severe forms, along with iron chelation therapy to manage iron overload. The management of thalassemia involves regular blood transfusions, typically every 2-4 weeks, to maintain adequate hemoglobin levels, usually targeting 9-10 g/dL pre-transfusion 1. These transfusions, however, lead to iron overload, necessitating iron chelation therapy with medications such as deferasirox, deferoxamine, or deferiprone 1.
Key Considerations
- Chelation therapy should begin after approximately 10-20 transfusions or when serum ferritin exceeds 1,000 ng/mL 1.
- For severe cases, hematopoietic stem cell transplantation offers the only curative option, particularly effective in children with HLA-matched siblings.
- Supportive care includes folic acid supplementation, management of complications, and genetic counseling.
- The goal of treatment is to reduce morbidity, mortality, and improve quality of life by managing anemia, preventing iron overload, and minimizing complications.
Treatment Monitoring
- Treatment should be monitored by assessing clinical status, LVEF, cardiac T2*, and ferritin trend 1.
- Cardiac T2* <10 ms is the most important predictor of development of heart failure, and serum ferritin and liver iron concentration are not adequate surrogates for cardiac iron measurement 1.
- Regular monitoring and adjustment of treatment are crucial to prevent complications and improve outcomes.
Recent Guidelines
- The American Heart Association consensus statement provides guidance on the diagnosis and treatment of cardiac dysfunction in β-thalassemia major, emphasizing the importance of early identification of cardiac iron overload and prompt treatment 1.
- The statement highlights the need for urgent consultation with a center with expertise in managing acute decompensated heart failure and the use of high-dose intravenous deferoxamine to control cardiac toxicity related to free iron 1.
From the Research
Thalassemia Treatment Overview
- 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.
- The primary treatment for thalassemia is blood transfusions, which help to increase the number of healthy red blood cells in the body 3.
Iron Chelation Therapy
- Iron chelation therapy is used to remove excess iron from the body, which can build up due to frequent blood transfusions 4, 5.
- Deferiprone and deferoxamine are two common iron chelators used to treat thalassemia patients 4, 6.
- Iron chelation therapy can help to prevent organ damage, improve cardiac function, and reduce the risk of complications such as heart failure and arrhythmias 6.
Transfusion Strategy
- The goal of transfusion therapy is to maintain a stable level of hemoglobin in the body, typically above 10 g/dL 5.
- Supertransfusion, or maintaining hematocrits above 35%, can help to decrease the rate of iron accumulation and improve plasma iron turnover 3.
- Using units of blood that contain primarily young red cells (neocytes) can also help to decrease the rate of iron accumulation and improve red cell survival 3.
Management of Transfusion-Related Iron Overload
- Regular monitoring of iron levels and organ function is essential to manage transfusion-related iron overload 2.
- Adjusting the dose and frequency of iron chelation therapy can help to maintain normal iron stores and prevent complications 4.
- Combination therapy with multiple iron chelators may be necessary for some patients to achieve optimal iron control 6.