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Article

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.

Haematologica - 1 May 2011

Satta Stefania, Perseu Lucia, Moi Paolo, Asunis Isadora, Cabriolu Annalisa, Maccioni Liliana, Demartis Franca Rosa, Manunza Laura, Cao Antonio, Galanello Renzo

Abstract excerpt

The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythropoiesis, has been...

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Identifiers

PMID: 21273267
DOI: 10.3324/haematol.2010.037333
PMCID: PMC3084925

Genes

KLF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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