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Int J Lab Hematol. 2015 May;37 Suppl 1:78-84. doi: 10.1111/ijlh.12356.

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

Author information

1
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada.
2
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, L8N 3Z5, Canada.

Abstract

Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is essential for hematopoiesis. KLF1 mutations have been associated with severe hematologic disorders, including congenital dyserythropoietic anemia type IV (CDAN4) due to a dominant-negative missense mutation (c.973G>A, p.Glu325Lys) and transfusion-dependent hemolytic anemia in compound heterozygotes for loss-of-function mutations. In addition, several benign hematologic conditions are due to KLF1 haploinsufficiency. Herein, we review the genotype-phenotype relationship associated with KLF1 mutations and discuss the utility of KLF1 gene testing in laboratory hematology.

KEYWORDS:

KLF1 gene; genotype-phenotype relationship; mutations

PMID:
25976964
DOI:
10.1111/ijlh.12356
[Indexed for MEDLINE]

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