Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: A report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology

Transfusion-dependent Diarriond-Blackfan anemia (DBA) patients opt for allogeneic hematopoletic stem cell transplantation (HSCT) as curative therapy. Clinical outcomes of 19 transplanted Japanese patients were analyzed. Prior to HSCT 10 patients (53%), suffered hemosiderosis with organ dysfunction, and all eight with short stature (42%) had adverse effects of prednisolone. Median age at the time of HSCT was 56 months. Transplantation sources were 13 bone marrow [six human leukocyte antigen (HLA)-matched siblings, and six HLA-matched and one HLA-mismatched unrelated donors], five cord blood (two HLA-matched siblings and three HLA-mismatched Unrelated donors), and one peripheral blood from haploidentical mother. All 13 patients with bone marrow transplantation (BMT) and two with siblina cord blood transplantation (CBT) had successful engraftment. Of three patients who underwent unrelated CBT, one died after engraftment. and the other two had graft failure but succeeded in a T from an HLA-disparate father and unrelated donor, second BM respectively. One died shortly after haploidentical PBSCT. The five-yr failure-free survival rate after BMT was higher than CBT (100%: 40% p = 0.002). Platelet recovery was slower in seven unrelated BMT than in six sibling BMT (p = 0.030). No other factors were associated with engraftment and survival. These results suggest that allogeneic ut not unrelated CBT, is an effective HSCT for refractory DBA.