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

28 Feb 2015

Abstract excerpt

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 anemia, jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that present in congenital...

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PMID: 25724378
DOI: 10.1182/blood-2014-08-590968

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