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

Yang, Zhantao; Keel, Sioḃán; Shimamura, Akiko; Liu, Li; T. Gerds, Aaron; Y. Li, Henry; L. Wood, Brent; L. Scott, Bart; L. Abkowitz, Janis

doi:10.1126/scitranslmed.aaf3006

Public

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

Published in Science Translational Medicine • May 11, 2016

Authors:

Zhantao Yang

Sioḃán Keel

Akiko Shimamura

Abstract

Diamond Blackfan anemia (DBA) and myelodysplastic syndrome (MDS) with isolated del(5q) are severe macrocytic anemias; although both are associated with impaired ribosome assembly, why the anemia occurs is not known. We cultured marrow cells from DBA (n = 3) and del(5q) MDS (n = 6) patients and deter...

Subject

Macrocytic anemia

Globin

Diamond–Blackfan anemia

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