Our researchers have been at the forefront of thalassemia research for decades. We are involved in a number of research initiatives aimed at improving thalassemia diagnosis and treatment including:
- Improving existing chelation therapies and investigating new ones
- Developing new ways to assess iron levels in the body
- Testing novel classes of medications that may decrease transfusion requirement
- Using stem cell transplants from matched donors to cure patients with transfusion-dependent thalassemia
- Developing gene therapy approaches for thalassemia major that would avoid the need to find a matched donor, because it’s the child’s own cells that are treated. One strategy we have developed, currently being studied in a clinical trial, uses gene editing to block the expression of the BCL11A gene. This restores the body’s ability to produce a fetal form of hemoglobin, compensating for loss of the adult form. We are also tracking patients receiving a new FDA-approved gene therapy called Zynteglo®.