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Article

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

European journal of human genetics : EJHG - 1 Oct 2015

Huang Jiwei, Zhang Xinhua, Liu Dun, Wei Xiaofeng, Shang Xuan, Xiong Fu, Yu Lihua, Yin Xiaolin, Xu Xiangmin

Abstract excerpt

Krüppel-like factor 1 (KLF1) regulates erythroid lineage commitment, globin switching, and the terminal maturation of red blood cells. Variants in human KLF1 have been identified as an important causative factor in a wide spectrum of phenotypes. This study investigated two unrelated male children in China who had refractory anemia associated with poikilocythemia. These were accompanied by an upregulation of...

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Source

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Identifiers

PMID: 25585695
DOI: 10.1038/ejhg.2014.291
PMCID: PMC4592085

Genes

KLF1
HBB

Variants

Provenance

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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Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.PMID 25585695Read ↗

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