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Article

Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.

Scientific reports - 10 Jan 2022

Heshusius Steven, Grech Laura, Gillemans Nynke, Brouwer Rutger W W, den Dekker Xander T, van IJcken Wilfred F J, Nota Benjamin, Felice Alex E, van Dijk Thamar B, von Lindern Marieke, Borg Joseph, van den Akker Emile, Philipsen Sjaak

Abstract excerpt

Haploinsufficiency for the erythroid-specific transcription factor KLF1 is associated with hereditary persistence of fetal hemoglobin (HPFH). Increased HbF ameliorates the symptoms of β-hemoglobinopathies and downregulation of KLF1 activity has been proposed as a potential therapeutic strategy. However, the feasibility of this approach has been challenged by the observation that KLF1 haploinsufficient individuals...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35013432
DOI: 10.1038/s41598-021-04126-6
PMCID: PMC8748495

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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