2. Academic Validation
  3. Diamond-Blackfan anemia: erythropoiesis lost in translation

Diamond-Blackfan anemia: erythropoiesis lost in translation

  • Blood. 2007 Apr 15;109(8):3152-4. doi: 10.1182/blood-2006-09-001222.
Johan Flygare 1,  Stefan Karlsson
Affiliations

Affiliation

  • 1 Department of Molecular Medicine and Gene Therapy, Institute of Molecular Medicine, and Lund Strategic Research Center for Stem Cell Biology and Cell Therapy, Lund University, A12 221-84 Lund, Sweden. johan.flygare@med.lu.se
PMID: 17164339 DOI: 10.1182/blood-2006-09-001222
Abstract

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least 4 genes are associated with DBA of which 2 have been identified so far. The known DBA genes encode the ribosomal proteins S19 and S24 accounting for 25% and 2% of the patients, respectively. Herein, we review possible links between ribosomal proteins and erythropoiesis that might explain DBA pathogenesis. Recent studies and emerging findings suggest that a malfunctioning translational machinery may be a cause of anemia in patients with DBA.

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