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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 5-6
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Short Communication

Hb Sichuan [α67(E16)Thr→Ile, HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis

ORCID Icon, , , , , & ORCID Icon show all
Pages 330-332 | Received 27 Aug 2018, Accepted 17 Oct 2018, Published online: 07 Jan 2019
 

Abstract

We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A1c program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II™ β-Thalassemia Short Program) showed no suspicious Hb variant. Sanger sequencing revealed a novel mutation [α67(E16)Thr→Ile, HBA2: c.203C>T]. We named this novel variant Hb Sichuan after the geographic origin of the 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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