Maryam BEHFAR, Lili KOOCHAKZADEH, Nafise YAZDANİAN, Pourya SALAJEGHEH, Tahereh ROSTAMİ, Nazanin Khodayari NAMİNİ, Ardeshir GHAVAMZADEH, Amir Ali HAMİDİEH

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

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 < 15 years) who underwentallo-HSCT from HLA-matched donors using non-TBI myeloablativeconditioning regimen (intravenous busulfan and cyclophosphamide ±antithymocyte globulin) during September 2010 to February 2014 arereported. For Graft versus Host Disease (GvHD) prophylaxis cyclosporine A.and a short course of methotrexate were administered. Except one patient whoreceived transplantation from his sibling cord blood, engraftment occurredin all the other patients (9 out of 10) with full donor chimerism (> 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.

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