KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome

We describe a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1-null human. The phenotype of severe nonspherocytic hemolytic...

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Bibliographic Details
Published in:Blood
Main Authors: Magor, Graham W., Tallack, Michael R., Gillinder, Kevin R., Bell, Charles C., McCallum, Naomi, Williams, Bronwyn, Perkins, Andrew C.
Format: Artigo
Language:Inglês
Published: American Society of Hematology 2015
Subjects:
Red Cells, Iron, and Erythropoiesis
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521397/
https://ncbi.nlm.nih.gov/pubmed/25724378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-08-590968
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