Thalassemia Program

Our innovative approach

As part of a thalassemia research network designated by the National Institutes of Health, the Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) Thalassemia Program provides your child with access to experts in the field and the most advanced clinical trials available.

Researchers from DF/CHCC have been at the forefront of thalassemia research and treatment for decades. A number of important advances in the field were made here:

• In the 1960s, David Nathan, MD, Senior Associate in Hematology,identified the usefulness of hypertransfusion therapy in the treatment of thalassemia.
• In the 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).
• In the 1970s, Nathan and Stuart Orkin, MD, current chairman of Pediatric Oncology at DF/CHCC, developed the first genetic test for prenatal diagnosis of thalassemia.
• In the 1970s, Nathan, Orkin, Yuet Wai Kan, MD, MBBS, and others identified the molecular biology of thalassemia syndromes.
• We participated in trials of a new oral iron chelator, deferisirox (Exjade), which was ultimately approved for the treatment of iron overload in thalassemia patients.

Iron chelation

Our Thalassemia Program is home to world-leading experts in iron chelation therapy, which is used to treat iron overload caused by repeated transfusions. Untreated iron overload can result in severe damage to the internal organs, including the liver, pancreas, heart and endocrine glands. Proper iron chelation therapy is one of the most important aspects of thalassemia care.

We offer the most effective available chelation treatments including intravenous deferoxamine (Desferal) and oral deferesirox (Exjade). For patients with hard-to-treat thalassemia, we provide access to Deferiprone, an experimental iron chelator currently under study.

Thalassemia Program leader Ellis Neufeld, MD, PhD, is leading clinical trials of a novel iron chelator which holds promise for individuals not responding well to other chelation therapy. He is also the principal investigator for the NIH-sponsored Thalassemia Longitudinal Cohort, a long-term study of patients treated for thalassemia.

Our experienced staff of researchers is working to design new chelators and investigate the effectiveness of new chelation therapies and combination chelation therapy.
 

Gene therapy

Currently, researchers in our Thalassemia Program are working on gene therapies ,  in the hopes of developing new treatments for thalassemia.

Hemoglobin is a protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. In thalassemia, the body’s ability to produce hemoglobin is compromised because of defects in either the alpha globin or beta globin genes, which contribute the protein portion of hemoglobin. This results in anemia that can range from mild to life-threatening.

Stuart Orkin, MD, and Vijay Sankaran, an MD-PhD student in Orkin's lab, identified a way to compensate for this problem: getting red blood cells to make another type of hemoglobin that normally stops being made after birth.

At birth, fetal hemoglobin (HbF) comprises 50 to 95 percent of a child's hemoglobin. As the child grows during the first year of life, there's a gradual switch to adult beta hemoglobin production. Until now, there's been no good direct way to reactivate HbF production.

Orkin, Sankaran and collaborators identified a gene which directly suppresses HbF production. They are conducting further studies to figure out how to target the gene therapeutically. If a strategy is found, it could potentially transform beta thalassemia into a benign or nearly benign condition.