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Article

Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.

British journal of haematology - 1 Aug 2021

Tangsricharoen Tanu, Natesirinilkul Rungrote, Phusua Arunee, Fanhchaksai Kanda, Ittiwut Chupong, Chetruengchai Wanna, Juntharaniyom Monthana, Charoenkwan Pimlak, Viprakasit Vip, Phokaew Chureerat, Shotelersuk Vorasuk

Abstract excerpt

Mutations in the KLF1 gene, which encodes a transcription factor playing a role in erythropoiesis, have recently been demonstrated to be a rare cause of hereditary haemolytic anaemia. We described the genotypic and phenotypic spectra of four unrelated families with compound heterozygous class 2/class 3 KLF1 mutations. All patients had p.G176RfsX179 on one allele and either p.A298P, p.R301H or p.G335R on the other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34227100
DOI: 10.1111/bjh.17616

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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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