Diamond-Blackfan anemia: erythropoiesis lost in translation.

Summary, in English

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.

• Author: Johan Flygare; Stefan Karlsson
• Department/s: Division of Molecular Medicine and Gene Therapy
• Publishing year: 2007
• Language: English
• Pages: 3152-3160
• Publication/Series: Blood
• Volume: 109
• Issue: 8
• Links: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17164339&dopt=Abstract; http://dx.doi.org/10.1182/blood-2006-09-001222
• Document type: Journal article review
• Publisher: American Society of Hematology
• Topic: Hematology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1528-0020