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 Blood, 15 April 2007, Vol. 109, No. 8, pp. 3152-3154.
Prepublished online as a Blood First Edition Paper on December 12, 2006; DOI 10.1182/blood-2006-09-001222.

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REVIEW ARTICLE

Diamond-Blackfan anemia: erythropoiesis lost in translation

Johan Flygare1, and Stefan Karlsson1

1 Department of Molecular Medicine and Gene Therapy, Lund Stem Cell Center, Lund, Sweden

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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