Allogeneic
hematopoietic stem cell transplantation (HSCT) can cure single gene disorders such as
thalassemia and
sickle cell anemia (SCA). These non-malignant diseases have in common severe
hemolytic anemia and high proliferative bone marrow, requiring frequent transfusions. The risk of rejection is high and
graft-vs-host disease is not desirable. Important progress has been made in the management of these diseases, including leukocyte depletion of blood products, and
chelation therapy, for both diseases, and erythrocytapheresis and hydroxycarbamide for SCA. However, morbidity and quality of life are still of concern. Results have also significantly improved for HSCT, with the reduction of rejection by using
anti-thymocyte globulin (ATG), which also decreases the risk of chronic
graft-vs-host disease. Current data show a more than 90% chance of cure with myeloablative conditioning in children with
hemoglobinopathy and a geno-identical donor. Results are similar whether the cell source is cord blood or bone marrow. Because of the risk of conditioning-related
infertility, ovarian and/or testis cryopreservation should be discussed. Non-myeloablative conditioning regimens have also been successfully developed in adults with SCA and organ dysfunction, making cure possible. These encouraging results should incite to perform HLA typing early in families with
hemoglobinopathies, and to systematically propose sibling cord blood cryopreservation for those without geno-identical donor.