title: Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.
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.
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada.|Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, L8N 3Z5, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Eng
mesh_terms: D000743:Anemia, Hemolytic / Q000175:diagnosis / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006402:Hematologic Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D051741:Kruppel-Like Transcription Factors; C080774:erythroid Kruppel-like factor
keywords: KLF1 gene; genotype-phenotype relationship; mutations