Thalassemia Fact Sheet
Thalassemia Fact Sheet
CIRM funds a large number of research projects investigating the basic biology of blood stem cells and possible uses of those cells in treating diseases, including the thalassemias. One CIRM-funded strategic partnership focuses on preparing a therapy for beta thalassemia for clinical testing and completing a clinical trial within four years..
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CIRM does not track stem cell clinical trials. If you or a family member is interested in participating in a clinical trial, please see the national trial database to find a trial near you: clinicaltrials.gov
Stem cell research for thalassemia
Thalassemias are genetic diseases that most often require inheriting the defective gene from both the mother and father. The form of the disease called Beta thalassemia is most common among people of Mediterranean origin. An estimated 1,000 individuals in the U.S. are living with the disease.
Beta thalassemia is often fatal due to organ damage. But that damage is a two-step process involving the disease itself and the therapy currently used to manage it. The genetic defect causes the patients to produce red blood cells with poorly functioning hemoglobin, the protein that carries oxygen to all our tissues. To correct this, doctors give patients frequent blood transfusions. Those in turn lead to a build up of iron in their blood and if this iron is not properly filtered out, it leads to potentially lethal organ damage.
Bone marrow transplants have been used to treat people with severe forms of Beta thalassemia. The procedure can give the patients a new set of blood-forming stem cells that have the correct gene for hemoglobin, but it is very risky. It currently requires using stem cells from a donor. Such transplants also require extensive pre-treatment, such as undergoing high-dose chemotherapy or radiation, to get rid of the faulty stem cells and risk rejection by the patient’s immune system.
Research funded by California’s stem cell agency is working to develop a safer form of bone marrow transplant for these patients. They are developing a way to genetically alter the patient’s own stem cells so that they can produce red cells with the correct hemoglobin.
Strategic Partnership Award
Researchers at this company and their collaborating clinical sites intend to remove bone marrow from people with Beta thalassemia and fix the genetic defect in the blood-forming stem cells. They will then reintroduce the modified stem cells into the patient where they are expected to produce new healthy red blood cells.