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Recommendations on hematopoietic stem cell transplantation for patients with Diamond–Blackfan anemia. On behalf of the Pediatric Diseases and Severe Aplastic Anemia Working Parties of the EBMT

Bone Marrow Transplantation volume 56, pages 2956–2963 (2021)Cite this article

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Abstract

Diamond Blackfan anemia (DBA) is a rare congenital syndrome presenting primarily as pure red cell aplasia with constitutional abnormalities and cancer predisposition. Established treatment options are corticosteroids, regular erythrocyte transfusions with iron chelation therapy, and hematopoietic stem cell transplantation (HSCT). To date, HSCT is the only definitive curative treatment for the hematological phenotype of DBA, but there is little experience with its use. Given the rarity of the disease and its unique features, an expert panel agreed to draw up a set of recommendations on the use of HSCT in DBA to guide clinical decision-making and practice. The recommendations address indications, pretransplant patient evaluation, donor selection, stem cell sources, conditioning regimens, prophylaxis of rejection and graft versus host disease, and post-transplant follow-up.

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Fig. 1: Algorithm to guide decisions on HSCT according to iron overload, patient age and type of donor.

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Authors and Affiliations

  1. Department of Pediatric Hematology, Oncology and Stem Cell Transplantation. Hospital Universitari Vall d’Hebron, Barcelona, Spain

    Cristina Diaz-de-Heredia

  2. Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

    Dorine Bresters

  3. Cure2Children Foundation, Florence, Italy

    Lawrence Faulkner

  4. Pediatric Stem Cell Transplantation Unit. Bahçeşehir University School of Medicine Istanbul, Medical Park Götzepe Hospital, İstanbul, Turkey

    Akif Yesilipek

  5. Department of Pediatric Hematology and Oncology, Universitätsklinikum Freiburg, Freiburg, Germany

    Brigitte Strahm

  6. Haematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

    Maurizio Miano

  7. Hematology and Immunology Department, Robert Debré Hospital - GHU APHP Nord Université de Paris, Paris, France

    Jean-Hugues Dalle

  8. BMT Unit, French Reference for Aplastic Anemia and PNH, Hôpital Saint Louis, Paris, France

    Régis Peffault de Latour

  9. Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University of Regensburg, Regensburg, Germany

    Selim Corbacioglu

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  1. Cristina Diaz-de-Heredia
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Contributions

C.D.H. conceived and designed the work; C.D.H., D.B., L.F., and A.Y. acquired data, interpreted the results, drafted and revised the manuscript; J.H.D., D.B., M.M., RPde L, and SC interpreted the results and revised the manuscript. All authors approved the final version of the manuscript and ensured the accuracy and integrity of the work.

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Correspondence to Cristina Diaz-de-Heredia.

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Diaz-de-Heredia, C., Bresters, D., Faulkner, L. et al. Recommendations on hematopoietic stem cell transplantation for patients with Diamond–Blackfan anemia. On behalf of the Pediatric Diseases and Severe Aplastic Anemia Working Parties of the EBMT. Bone Marrow Transplant 56, 2956–2963 (2021). https://doi.org/10.1038/s41409-021-01449-w

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