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Article

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.

American journal of human genetics - 12 Nov 2010

Arnaud Lionel, Saison Carole, Helias Virginie, Lucien Nicole, Steschenko Dominique, Giarratana Marie-Catherine, Prehu Claude, Foliguet Bernard, Montout Lory, de Brevern Alexandre G, Francina Alain, Ripoche Pierre, Fenneteau Odile, Da Costa Lydie, Peyrard Thierry, Coghlan Gail, Illum Niels, Birgens Henrik, Tamary Hannah, Iolascon Achille, Delaunay Jean, Tchernia Gil, Cartron Jean-Pierre

Abstract excerpt

The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassifie...

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Share to Anemia, Dyserythropoietic, Congenital
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Share to Erythroblasts

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Source

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Identifiers

PMID: 21055716
DOI: 10.1016/j.ajhg.2010.10.010
PMCID: PMC2978953

Genes

KLF1
CDA
AQP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21055716-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.PMID 21055716Read ↗

Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm.Semantic proximity Read ↗

A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.Semantic proximity Read ↗

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1).Semantic proximity Read ↗

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.Semantic proximity Read ↗

Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.Semantic proximity Read ↗

Krüppel-Like Factor 1: A Pivotal Gene Regulator in ErythropoiesisSemantic proximity Read ↗

Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.Semantic proximity Read ↗

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.Semantic proximity Read ↗

The multifunctional role of EKLF/KLF1 during erythropoiesis.Semantic proximity Read ↗

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Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like PhenotypesSemantic proximity Read ↗

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.Semantic proximity Read ↗

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