Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype

Patrick G Gallagher; Yelena Maksimova; Vincent P Schulz; Bernard G Forget

doi:10.1080/03630269.2016.1214921

Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype

Hemoglobin. 2016 Sep;40(5):361-364. doi: 10.1080/03630269.2016.1214921. Epub 2016 Sep 22.

Authors

Patrick G Gallagher^{1

2}, Yelena Maksimova¹, Vincent P Schulz¹, Bernard G Forget³

Affiliations

¹ a Department of Pediatrics , Yale University School of Medicine , New Haven , CT , USA.
² b Departments of Pathology and Genetics , University School of Medicine , New Haven , CT , USA.
³ c Department of Internal Medicine , Yale School of Medicine , New Haven , CT , USA.

PMID: 27821015
DOI: 10.1080/03630269.2016.1214921

Abstract

We present a patient with a compound heterozygosity codon 39 (C > T) (β⁰) [or β39(C5)Gln→Stop (G39X); CAG > TAG; HBB: c.118C > T] and -87 (C > T) (β⁺) (HBB: c.-137C > T) β-globin mutations, a non transfusion-dependent thalassemia phenotype and 97.0% fetal hemoglobin. A novel heterozygous mutation was identified in a highly conserved residue in the COOH-terminus of the Krüppel-like factor 1, R360H, that likely altered DNA-binding and impaired transactivation.

Keywords: Fetal hemoglobin; Krüppel-like factor 1; thalassemia; zinc finger.

Publication types

Case Reports

MeSH terms

Conserved Sequence
Fetal Hemoglobin / analysis*
Heterozygote
Humans
Kruppel-Like Transcription Factors / genetics*
Mutation
Phenotype*
beta-Globins / genetics
beta-Thalassemia / genetics*

Substances

Kruppel-Like Transcription Factors
beta-Globins
erythroid Kruppel-like factor
Fetal Hemoglobin