Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: A report from the Italian Association of Paediatric Haematology and Oncology Registry

Franca Fagioli, Paola Quarello, Marco Zecca, Edoardo Lanino, Paola Corti, Claudio Favre, Mimmo Ripaldi, Ugo Ramenghi, Franco Locatelli, Arcangelo Prete

Research output: Contribution to journalArticlepeer-review

Abstract

Allogeneic haematopoietic stem cell transplantation (HSCT) is the only curative option for patients with Diamond Blackfan anaemia (DBA). We report the transplantation outcome of 30 Italian DBA patients referred to the Italian Association of Paediatric Haematology and Oncology Registry between 1990 and 2012. This is one of the largest national registry cohorts of transplanted DBA patients. Most patients (83%) were allografted after 2000. A matched sibling donor was employed in 16 patients (53%), the remaining 14 patients (47%) were transplanted from matched unrelated donors. Twenty-eight of the 30 patients engrafted. One patient died at day +6 due to veno-occlusive disease without achieving neutrophil recovery and another patient remained transfusion-dependent despite the presence of a full donor chimerism. The 5-year overall survival and transplant-related mortality was 74·4% and 25·6%, respectively. Patients younger than 10 years as well as those transplanted after 2000 showed a significantly higher overall survival and a significantly lower risk of transplant-related mortality. No difference between donor type was observed. Our data suggest that allogeneic HSCT from a related or unrelated donor was a reasonable alternative to transfusion therapy in young and well chelated DBA patients.

Original languageEnglish
Pages (from-to)673-681
Number of pages9
JournalBritish Journal of Haematology
Volume165
Issue number5
DOIs
Publication statusPublished - 2014

Keywords

  • BMT
  • Congenital red cell aplasia
  • Diamond-Blackfan anaemia
  • Iron overload
  • Neoplasm

ASJC Scopus subject areas

  • Hematology
  • Medicine(all)

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