Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment.

Hojun Li, Harvey F Lodish, Colin A Sieff

Journal: Hematology/oncology clinics of North America 2019;32(4):701-712

PMID: 30047421

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Abstract

Diamond-Blackfan anemia (DBA) is a severe congenital hypoplastic anemia caused by mutation in a ribosomal protein gene. Major clinical issues concern the optimal management of patients resistant to steroids, the first-line therapy. Hematopoietic stem cell transplantation is indicated in young patients with an HLA-matched unaffected sibling donor, and recent results with matched unrelated donor transplants indicate that these patients also do well. When neither steroids nor a transplant is possible red cell transfusions are required, and iron loading is rapid in some DBA patients, so effective chelation is vital. Also discussed are novel treatments under investigation for DBA.

Address: Division of Hematology/Oncology, Dana Farber and Boston Children's Cancer and Blood Disorders Center, 450 Brookline Avenue, Boston, MA 02215, USA.; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Division of Hematology/Oncology, Dana Farber and Boston Children's Cancer and Blood Disorders Center, 450 Brookline Avenue, Boston, MA 02215, USA. Electronic address: [email protected].

DOI: 10.1016/j.hoc.2018.04.005

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MeSH Terms: Allografts, Anemia, Diamond-Blackfan, Erythrocyte Transfusion, Hematopoietic Stem Cell Transplantation, Humans, Mutation, Siblings, Tissue Donors