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

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

Acknowledgements

We dedicate this report to the late Bernard G. Forget. He cared for this patient for decades and was working on this report when he died.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.