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Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder.

Blood cells, molecules & diseases - 1 Jul 2016

Tepakhan Wanicha, Yamsri Supawadee, Sanchaisuriya Kanokwan, Fucharoen Goonnapa, Xu Xiangmin, Fucharoen Supan

Abstract excerpt

Hemoglobin E is the most common Hb variant found in South East Asia. Variation of Hb F expression in Hb E syndrome is associated with several genetic modifiers. We report several single nucleotide polymorphisms (SNPs), including nine known and five novel mutations of the Krüppel-like factor 1 (KLF1; an erythroid specific transcription factor) gene and determine their associations with phenotypic expression of Hb...

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Source

Identifiers

PMID: 27282573
DOI: 10.1016/j.bcmd.2016.04.010

Genes

KLF1
MYB

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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