Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 2
65
Views
8
CrossRef citations to date
0
Altmetric
Short Communications

Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene

, , , ORCID Icon &
Pages 133-135 | Received 19 Feb 2021, Accepted 16 Mar 2021, Published online: 11 Apr 2021
 

Abstract

We report a novel mutation on the β-globin gene, Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A] that was detected in two unrelated Chinese individuals. Patient 1 also carried an α+-thalassemia (α+-thal) –α4.2 (leftward) deletion, but hematological analyses showed no clinical consequences. Patient 2 was heterozygous for Hb Hezhou. Hemoglobin (Hb) analysis was performed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). The Hb variant remained undetected using HPLC, while an additional peak was detected by CE. The finding of Hb Hezhou indicates that the possibilities of rare Hb variants should be alerted in the thalassemia screening program and precisely diagnosed depending on the Hb separation technique used.

Disclosure statement

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

Additional information

Funding

This study was supported by the Health Department Research Fund of Guangxi [Z2011449, Z20200076].

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 65.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 1,628.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.