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

J S Waye; B Eng

doi:10.1111/ijlh.12356

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

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

Authors

J S Waye^{1

2}, B Eng¹

Affiliations

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.

PMID: 25976964
DOI: 10.1111/ijlh.12356

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.

Publication types

Review

MeSH terms

Anemia, Hemolytic / diagnosis
Anemia, Hemolytic / genetics
Genetic Association Studies*
Genetic Predisposition to Disease / genetics
Genotype
Hematologic Diseases / diagnosis
Hematologic Diseases / genetics*
Humans
Kruppel-Like Transcription Factors / genetics*
Mutation*
Phenotype

Substances

Kruppel-Like Transcription Factors
erythroid Kruppel-like factor