Beta-thalassemia major is a disease of the blood and bone marrow. Patients are born with it, and they are unable to make normal hemoglobin and red cells. As a result, most patients with beta-thalassemia major receive red blood cell transfusions all their lives. However, these transfusions do not cure the disease.
The only other treatment for beta-thalassemia is a bone marrow or stem cell transplant. The best results obtained with a bone marrow transplant are when a matched donor is available -- most often a brother, sister, or parent. (Bone marrow transplants can be done using unrelated donors, but they are more risky.) A bone marrow transplant may cure beta-thalassemia major. Without a matched sibling or parent, the standard treatment is continuous blood transfusions.
Researchers at Memorial Sloan-Kettering have created the gene for healthy hemoglobin in the laboratory, and in the future, they plan to insert the gene into stem cells from patients with beta-thalassemia major. The stem cells with the healthy gene would then be returned to the patient. This approach has cured the disease in mice.
Stem cells can be obtained from the bone marrow. However, the number of stem cells is limited. In order to obtain large amounts of stem cells, it is best to stimulate the bone marrow to make stem cells and send these cells into the bloodstream. To accomplish this, a patient must receive granulocyte colony-stimulating factor (G-CSF), a growth factor which stimulates the bone marrow to make more stem cells and then "mobilize" them into the blood.
The purpose of this clinical trial is to find out if G-CSF helps make more stem cells in patients with thalassemia major and to find out if it has any side effects in these patients. This study is not a gene therapy trial and will not help patients' beta-thalassemia.
