What is thalassemia?

Thalassemia is a genetic blood disease in which the body makes abnormal hemoglobin, which leads to severe anemia. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. If your child has thalassemia, his or her red blood cells die prematurely, leading to anemia, which may make your child feel tired and weak.

The main forms of thalassemia are alpha (defect in alpha-globin gene production located on chromosome 16) and beta (mutations in the beta-globin gene located on chromosome 12) thalassemia. Depending on which globin is mutated, and how many mutations your child has, there is wide variability in disease severity. If your child has a severe form of the disease, he or she may need frequent blood transfusions (transfusion-dependent thalassemia), leading to secondary risks of iron overload and exposure to infections like hepatitis B or C.

How do we treat thalassemia at Stanford Medicine Children’s Health?

Stem cell transplantation is a curative treatment option for patients with transfusion-dependent thalassemia if a well-matched donor is available. At Stanford, we are focused on improving the outcomes of sibling and unrelated donor transplants for thalassemia by reducing toxicity and reducing the risk of graft-versus-host disease. We use less toxic ways to prepare the body for transplantation when well-matched sibling donors are available. Your child will likely be discharged from the hospital 40 to 50 days after transplantation when his or her blood and immune systems are functioning at healthy levels.

Patients with transfusion-dependent beta thalassemia can now be treated using gene therapy, in which a normal hemoglobin gene is inserted into the patient’s own stem cells and then transplanted back into the patient. In clinical trials at Stanford and other centers, this treatment was shown to be safe and effective at getting patients to produce more hemoglobin, and the treatment is now FDA approved. We are one of 14 centers in the United States to offer this treatment.

We work with the hematology and genetics teams to provide comprehensive treatment and counseling to parents and siblings of children with thalassemia.