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

作者：Gallagher Patrick G^*; Maksimova Yelena; Schulz Vincent P; Forget Bernard G

来源：Hemoglobin, 2016, 40(5): 361-364.

DOI：10.1080/03630269.2016.1214921

• Fetal hemoglobin
• Kruppel-like factor 1
• thalassemia
• zinc finger

We present a patient with a compound heterozygosity codon 39 (C>T) ((0)) [or 39(C5)GlnStop (G39X); CAG>TAG; HBB: c.118C>T] and -87 (C>T) ((+)) (HBB: c.-137C>T) -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 Kruppel-like factor 1, R360H, that likely altered DNA-binding and impaired transactivation.

• 出版日期2016-9