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Article

Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin.

Annals of hematology - 1 Jan 2013

Radmilovic Milena, Zukic Branka, Petrovic Maja Stojiljkovic, Bartsakoulia Marina, Stankovic Biljana, Kotur Nikola, Dokmanovic Lidija, Georgitsi Marianthi, Patrinos George P, Pavlovic Sonja

Abstract excerpt

Hereditary persistence of fetal hemoglobin (HPFH) is a rare hereditary condition resulting in elevated levels of fetal hemoglobin (HbF) in adults. Typical HPFH is associated with promoter mutations or large deletions affecting the human fetal globin (HBG1 and HBG2) genes, while genetic defects in other genes involved in human erythropoiesis, e.g. KLF1, also result in atypical HPFH. Here, we report the first KLF1...

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Source

Identifiers

PMID: 23161389
DOI: 10.1007/s00277-012-1625-9

Genes

KLF1
CAT
HBG1
HBG2

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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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