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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 3
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Short Communication

A Novel β-Globin Gene Mutation: Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C]

ORCID Icon, , , , &
Pages 196-198 | Received 19 Jul 2018, Accepted 25 Jul 2018, Published online: 02 Oct 2018
 

Abstract

We report a novel β-globin chain variant, Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C], in a 52-year-old Chinese individual. The hemoglobin (Hb) variant takes the position of the Hb D zone using capillary electrophoresis. Sanger sequencing revealed a novel base mutation on the β-globin gene, HBB: c.272A>C, that resulted in a transition of glutamic acid to alanine at exon 2 of the β-globin gene. We named this novel variant Hb Shenzhen for the geographic origin of this proband.

Disclosure statement

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

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