Thalassemia

History of excellence

At Children’s Hospital Boston, we have a history of excellence in treating children with thalassemia. Today, our researchers continue to work on the development of new methods of diagnosis and treatment .

Here are just a few of the breakthroughs we’ve been a part of:

1960s:

• David Nathan, MD,now pediatrics and president emeritus, recognized the important role of hypertransfusion to treat thalassemia

1970s:

• Richard Proper, MD, and David Nathan, MD, demonstrated effective iron chelation (removal of excess iron from the blood) using the intravenous drug deferoxamine (Desferal).
• Nathan and Stuart Orkin, MD, current chairman of Pediatric Oncology, developed the first genetic test for prenatal diagnosis of thalassemia
• Nathan, Orkin, Yuet Wai Kan, MD, MBBS, and others identified the molecular biology of thalassemia syndromes.

2000s:

• A study tested the effectiveness of a new oral iron chelator, deferasirox (Exjade), which was approved for the treatment of iron overload in thalassemia patients.

Research underway:

• We are involved in a number of other research initiatives aimed at improving thalassemia care including:
  • investigating the effectiveness of another new oral iron chelator, called FBS0701.
  • improving the effectiveness of currently available therapies
  • using stem cell transplants to cure patients with thalassemia major
  • improving chelation therapy
  • developing new ways to assess iron levels in the body
     

New developments in thalassemia research

Hemoglobin is a protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. Children with thalassemia often experience anemia, which causes fatigue, pale skin, increased heart rate and other symptoms ranging from mild to life-threatening.

Stuart Orkin, MD, chairman of Pediatric Oncology, and Vijay Sankaran, now a resident at Children’s, identified a way to compensate for this problem: getting red blood cells to make another type of hemoglobin (HbF) that normally stops being made after birth.

Orkin and Sankaran discovered a gene that prevents HbF production. When they turned this gene off, cells began making HbF in large amounts. Orkin and Sankaran are conducting further studies to figure out how to target this gene with medications. If a strategy is found, it could potentially transform thalassemia into a benign or nearly benign condition.

Learn more.