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

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.

• Authors: Hojun Li, Harvey F Lodish, Colin A Sieff
• Journal: Hematology/oncology clinics of North America (Hematol Oncol Clin North Am) Vol. 32 Issue 4 Pg. 701-712 (Aug 2018) ISSN: 1558-1977 [Electronic] United States
• PMID: 30047421 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2018 Elsevier Inc. All rights reserved.

Topics

• Allografts
• Anemia, Diamond-Blackfan (genetics, metabolism, pathology, therapy)
• Erythrocyte Transfusion
• Hematopoietic Stem Cell Transplantation
• Humans
• Mutation
• Siblings
• Tissue Donors