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Hematopoietic cell transplantation for Diamond-Blackfan anemia and the myelodysplastic syndromes in children and adolescents

Shakila Khan, MD
Section Editors
Donald H Mahoney, Jr, MD
Robert S Negrin, MD
Deputy Editor
Alan G Rosmarin, MD


Hematopoietic cell transplantation (HCT) is an accepted form of treatment for various hematologic disorders in children, such as aplastic anemia and beta thalassemia major. (See "Hematopoietic cell transplantation for aplastic anemia in adults" and "Hematopoietic cell transplantation for idiopathic severe aplastic anemia and Fanconi anemia in children and adolescents" and "Efficacy of hematopoietic cell transplantation in beta thalassemia major".)

The use in other hematologic disorders is not as well established. This topic review discusses the use of HCT in two pediatric disorders: Diamond-Blackfan anemia and the myelodysplastic syndromes. The use of HCT in patients with sickle cell anemia is discussed separately. (See "Hematopoietic cell transplantation in sickle cell disease".)

The term "hematopoietic cell transplantation" (HCT) will be used throughout this review as a general term to cover transplantation of progenitor cells from any source (eg, bone marrow, peripheral blood, cord blood). Otherwise, the source of such cells will be specified (eg, allogeneic peripheral blood progenitor cell transplantation). (See "Sources of hematopoietic stem cells".)


Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia that usually presents early in infancy. It is characterized by macrocytic anemia, a normal or slightly reduced white blood cell count, and a normocellular bone marrow with erythroid hypoplasia. (See "Anemia in children due to decreased red blood cell production".)

Initial treatment — Approximately 20 to 30 percent of children with DBA recover spontaneously after initial supportive care. The mainstays of therapy of DBA are corticosteroids and blood transfusion. Infants are typically maintained with transfusions until they are 6 to 12 months old, then a trial of corticosteroids is given and has a 60 to 70 percent response rate. This is discussed in more detail separately. (See "Anemia in children due to decreased red blood cell production", section on 'Diamond-Blackfan anemia'.)


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Literature review current through: Sep 2016. | This topic last updated: Jul 9, 2015.
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