Stem Cell Transplantation for Congenital Dyserythropoietic Anemia. a Retrospective Study on Behalf of Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)

Abstract

INTRODUCTIONCongenital Dyserythropoietic Anemias (CDA) are a group of heterogeneous bone marrow disorders characterized by anemia, ineffective erythropoiesis and specific cytomorphological features involving bone marrow late erythroblasts. Patients may also show some dysmorphisms involving fingers and nails. In the last few years genetic mutation explaining most cases of CDA have been identified.The management of the disease is generally limited to blood transfusion and iron chelation. Some report have shown the efficacy of stem cell transplantation (SCT) as the only curative option for this disease, however data from literature is scarce and limited to a very small number of casesIn this retrospective study we describe the outcome of Stem Cell Transplantation in patients with CDA reported in the EBMT data base.PATIENTS AND METHODSThe study was conducted on behalf of Severe Aplastic Anemia Working Party (SAAWP) of the EBMT and was based on data of patients affected with CDA who underwent SCT and registered in the EBMT Data Base. Clinical information of the disease and details on transplant procedures and follow-up were collected by a specific form distributed to Centres participating in the study.RESULTSBetween 1996-2016, 39 patients (22 males-17 females) whose median age was 5.1 yo (range 0.9-38.2) underwent SCT from matched sibling donor (20, 51%), unrelated donor (17, 44%) or from other relatives (2, 5%) using bone marrow (30, 77%), peripheral blood (7, 18%) or cord blood (2, 5%) as cell source. All patients but one received a myeloblative regimen. Patients' characteristics and transplants outcome details are shown in Table 1. Median days to neutrophils and platelets engraftment were 21 and 34, respectively. Secondary graft failure occurred in 8 patients (20%). Median follow-up was 44 months (range 13-71). Overall survival at 36 months was 70%. Patients who were transplanted with iron overload and who were transplanted from unrelated donor had a significantly inferior outcome (36 month OS: 51% vs 92%, p =0.05 and 45% vs 90%, p 0.007, respectively).CONCLUSIONTo the best of our knowledge, this is the largest reported cohort of patients transplanted for CDA showing that family donor transplants have a better outcome and that iron overload negatively affects the procedure as reported in other red cell disorders. [Display omitted] DisclosuresPeffault De Latour:Amgen: Research Funding; Alexion Pharmaceuticals, Inc.: Consultancy, Honoraria, Research Funding; Novartis: Consultancy, Honoraria, Research Funding; Pfizer: Consultancy, Honoraria, Research Funding.