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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Udgivet i:Blood
Main Authors: Magor, Graham W., Tallack, Michael R., Gillinder, Kevin R., Bell, Charles C., McCallum, Naomi, Williams, Bronwyn, Perkins, Andrew C.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2015
Fag:
Red Cells, Iron, and Erythropoiesis
Online adgang: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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