Bone marrow transplantation with reduced intensity conditioning for Diamond-Blackfan anemia

Abstract

Patients with Diamond-Blackfan anemia (DBA), who respond poorly to steroids, and are dependent on transfusion, are candidates for hematopoietic cell transplantation (HCT); however, the optimal conditioning regimen remains to be established. Here, we report the case of a 3-year-old girl with DBA who was successfully treated by unrelated bone marrow transplantation (BMT) following reduced intensity conditioning (RIC) consisting of fludarabine (125 mg/m²), melphalan (140 mg/m²), rabbit antithymocyte globulin (5 mg/kg), and total body irradiation (3 Gy). Engraftment was achieved on day 30. She suffered from stage 2 acute graft-versus-host disease of the gut, which was resolved by increasing the dose of tacrolimus. At 11 months after BMT, she is independent of transfusions and maintains complete donor-type chimerism. RIC-HCT may be a promising option for DBA, although more cases are required to assess the efficacy and safety of RIC-HCT.