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Article

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

Blood - 6 Mar 2014

Viprakasit Vip, Ekwattanakit Supachai, Riolueang Suchada, Chalaow Nipon, Fisher Chris, Lower Karen, Kanno Hitoshi, Tachavanich Kalaya, Bejrachandra Sasithorn, Saipin Jariya, Juntharaniyom Monthana, Sanpakit Kleebsabai, Tanphaichitr Voravarn S, Songdej Duantida, Babbs Christian, Gibbons Richard J, Philipsen Sjaak, Higgs Douglas R

Abstract excerpt

In this study, we report on 8 compound heterozygotes for mutations in the key erythroid transcription factor Krüppel-like factor 1 in patients who presented with severe, transfusion-dependent hemolytic anemia. In most cases, the red cells were hypochromic and microcytic, consistent with abnormali...

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Identifiers

PMID: 24443441
DOI: 10.1182/blood-2013-09-526087

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24443441-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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