Research ArticleGenetics

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome

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Science Translational Medicine  11 May 2016:
Vol. 8, Issue 338, pp. 338ra67
DOI: 10.1126/scitranslmed.aaf3006

Putting the heme in anemia

Diamond Blackfan anemia (DBA) and myelodysplastic syndrome (MDS) are both associated with impaired ribosome assembly; however, how the ribosomal defect connects to anemia remains unknown. Yang et al. report that ribosomal deficiencies in individuals with either DBA or Del(5q) MDS lead to insufficient globin protein synthesis but normal heme synthesis, which results in excess heme and reactive oxygen species in early erythroid precursors and proerythroblast cell death. Treating affected cells with an inhibitor of heme synthesis improves erythroid cell output in cell culture. Thus, blocking heme synthesis may serve as a therapeutic strategy in individuals with DBA or Del(5q) MDS.

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