First Report of Hb Kent [β37(C3)Trp→Cys (TGG>TGC) HBB: c.114G>C] in a Chinese Family

Abstract

We report a novel HBB: c.114G>C mutation in a Chinese family. This mutation resulted in a β37(C3)Trp→Cys amino acid substitution and was synonymous with Hb Kent, a hemoglobin (Hb) variant that was reported exclusively in patients of European descent. Though Hb Kent has a normal oxygen affinity and molecular stability, it has a characteristic dual variant appearance on cellulose acetate electrophoresis (CAE) and high performance liquid chromatography (HPLC) caused by the posttranslational modification of cysteine. We also report the phenotypic expression of this variant when coinherited with the Southeast Asian (– –^SEA) double α-globin gene deletion.

Keywords:

• α1β2 Contact
• α-thalassemia (α-thal)
• hemoglobin (Hb) variant
• Hb Kent
• posttranslational modification

Disclosure statement

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