Diamond-Blackfan anemia: erythropoiesis lost in translation.
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.
Flygare
Johan
J
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
Karlsson
Stefan
S
D029503:Anemia, Diamond-Blackfan / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000818:Animals; D002874:Chromosome Mapping; D004920:Erythropoiesis / Q000235:genetics*; D006801:Humans; D014176:Protein Biosynthesis / Q000235:genetics*; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism
D012269:Ribosomal Proteins; C040343:ribosomal protein S19