Detection of the Unstable Hb Köln (HBB: c.295G>A) by a Capillary Electrophoresis Method. (1st November 2016)

• Record Type: Journal Article
• Authors: Li, You-Qiong; Ye, Li-Hua; Mo, Yun
• Is Part Of: Hemoglobin. Volume 40:Number 6(2016)
• Page Start: 417
• Page End: 419
• Publication Date: 2016-11-01
• Subjects: Capillary electrophoresis -- Hb Köln -- high performance liquid chromatography; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2016.1276930
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: Hb Köln ( HBB : c.295G>A) is an unstable β-globin gene variant with a G TG> A TG 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.