Recommendations on hematopoietic stem cell transplantation for patients with Diamond-Blackfan anemia. On behalf of the Pediatric Diseases and Severe Aplastic Anemia Working Parties of the EBMT.

Abstract

Diamond Blackfan anemia (DBA) is a rare congenital syndrome presenting primarily as pure red cell aplasia with constitutional abnormalities and cancer predisposition. Established treatment options are corticosteroids, regular erythrocyte transfusions with iron chelation therapy, and hematopoietic stem cell transplantation (HSCT). To date, HSCT is the only definitive curative treatment for the hematological phenotype of DBA, but there is little experience with its use. Given the rarity of the disease and its unique features, an expert panel agreed to draw up a set of recommendations on the use of HSCT in DBA to guide clinical decision-making and practice. The recommendations address indications, pretransplant patient evaluation, donor selection, stem cell sources, conditioning regimens, prophylaxis of rejection and graft versus host disease, and post-transplant follow-up.