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

Abstract

Transfusion-dependent Diamond-Blackfan anemia (DBA) patients opt for allogeneic hematopoietic 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 sibling 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 second BMT from an HLA-disparate father and unrelated donor, 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 BMT, but not unrelated CBT, is an effective HSCT for refractory DBA.

Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia

“…24,25 In our series, all 13 patients with DBA given a related UCBT and, three out of eight given an unrelated UCBT, are alive. The Centre of International Blood and Marrow Transplant Registry (CIBMTR) reported outcomes of 61 patients with DBA; 41 (67%) were transplanted from an HLA identical sibling and 20 (33%) from an unrelated bone marrow donor.…”

Cardiac Involvement in Hemochromatosis

“…163 All these patients should nevertheless continue to undergo treatment to reduce iron overload to prevent hemochromatosis of the transplanted heart. 164 in patients with secondary iron overload such as myelodysplastic syndrome, 165 sickle cell anemia, 166 Diamond-Blackfan syndrome, 167 and β-thalassemia, 168 hematopoietic stem cell transplantation can decrease the blood transfusion requirements and slow the rate of iron overload in these patients.…”

Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia

“…4 While transfusion dependency, unresponsiveness to corticosteroids or development of additional cytopenias can justify the indication for hematopoietic stem cell transplantation (HSCT), 4 the time point for HSCT in DBA patients -one recommendation is between 3 and 9 years of age 1 -is less clearly defined due to variability of the disease course, including spontaneous remission. 1 The median age at HSCT in DBA series is 7 years (range, 2.6 -14 years), [5][6][7][8][9] but the avoidance of iron overload and allosensitization from regular red blood cell transfusions may be reasons to consider HSCT in children younger than 3 years.…”