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Article

Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.

Scientific reports - 17 Sept 2021

Eernstman Jesse, Veldhuisen Barbera, Ligthart Peter, von Lindern Marieke, van der Schoot C Ellen, van den Akker Emile

Abstract excerpt

Beta-hemoglobinopathies become prominent after birth due to a switch from γ-globin to the mutated β-globin. Haploinsufficiency for the erythroid specific indispensable transcription factor Krueppel-like factor 1 (KLF1) is associated with high persistence of fetal hemoglobin (HPFH). The In(Lu) phenotype, characterized by low to undetectable Lutheran blood group expression is caused by mutations within KLF1 gene....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34535703
DOI: 10.1038/s41598-021-97149-y
PMCID: PMC8448862

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.PMID 34535703Read ↗

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