Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen

Özet

Allogeneic Hematopoietic Stem Cell Transplantation (allo-HSCT) is the onlyknown curative option for hematologic manifestations of Diamond-Blackfananemia (DBA) as a rare inherited bone marrow failure syndrome. Thistreatment may be considered for DBA patients with corticosteroid-resistance,transfusion dependence, and/or progression to severe aplastic anemia ormyelodysplastic syndrome (MDS)/ Acute myleloid leukemia (AML). In thisprospective study, 10 pediatric DBA patients (age 95%).The median neutrophil and platelet engraftment times were 11 (range, 10-13) days and 23 (range, 15-50) days, respectively. Acute GvHD developed in7 patients. After a median follow-up of 53.3 months, 8 patients are still alive,of whom 7 patients are disease-free. The other two patients died due to gradeIII-IV acute GvHD. Our data suggests that allo-HSCT using busulan-basednon-TBI myeloablative conditioning regimen could be a long-term effectivetreatment for DBA patients. Early transplantation especially before havingmultiple transfusions leading to iron overload, particularly from an HLAmatched sibling donor would be associated with favorable outcomes.