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The Scientific World Journal
Volume 2012 (2012), Article ID 184362, 8 pages
Review Article

Progress towards Mechanism-Based Treatment for Diamond-Blackfan Anemia

Department of Molecular Medicine and Gene Therapy, 22184 Lund University, Lund, Sweden

Received 9 October 2011; Accepted 20 December 2011

Academic Editors: R. A. Brodsky, W. Fried, N. Giannakoulas, and N. Komatsu

Copyright © 2012 Sara E. Sjögren and Johan Flygare. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplastic anemia, characterized by macrocytic anemia, reticulocytopenia, and severely reduced numbers of erythroid precursors in the bone marrow. For more than fifty years, glucocorticoids have remained the main option for pharmacological treatment of DBA. While continuous glucocorticoid administration increases hemoglobin levels in a majority of DBA patients, it also causes severe side effects. There is therefore a great need for more specific and effective treatments to boost or replace the use of glucocorticoids. Over the years, many alternative therapies have been tried out, but most of them have shown to be ineffective. Here we review previous and current attempts to develop such alternative therapies for DBA. We further discuss how emerging knowledge regarding the pathological mechanism in DBA and the therapeutic mechanism of glucocorticoids treatment may reveal novel drug targets for DBA treatment.