What is thalassemia?

Thalassemia is a genetic blood disease in which the body makes less hemoglobin, which leads to severe anemia. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. People with thalassemia have a reduced production of globin chains (proteins that surround and protect the heme molecule), and consequently their red cells die prematurely in the bone marrow, leading to anemia, which may make patients 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 a patient has, there is wide variability in disease severity. People with severe forms of the disease require frequent blood transfusions (transfusion-dependent thalassemia), leading to secondary risks of iron overload and exposure to infections like hepatitis B/C.

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

Allogeneic 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. Patients are usually discharged from the hospital 40 to 50 days after transplantation when their blood and immune systems are functioning at healthy levels

Patients with transfusion-dependent beta thalassemia are now being treated in a clinical trial of gene therapy in which a normal hemoglobin gene is inserted into the patient’s own blood stem cells and then transplanted back into the patient.

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