Detection of the Unstable Hb Köln (HBB: c.295G>A) by a Capillary Electrophoresis Method

Abstract

Hb Köln (HBB: c.295G>A) is an unstable β-globin gene variant with a GTG>ATG substitution at codon 98. This variant is quite frequent in Europe and the USA but rare in China. It can easily be misdiagnosed as Hb Constant Spring (Hb CS; HBA2: c.427T>C) by high performance liquid chromatography (HPLC), but detection and quantification of both Hb Köln and degraded Hb Köln by capillary electrophoresis (CE) are possible. Thus, we concluded that CE was the preferred method for Hb Köln detection.

Keywords:

• Capillary electrophoresis
• Hb Köln
• high performance liquid chromatography

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, Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of China [Z2011449].