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

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...

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Bibliographic Details
Published inHemoglobin Vol. 40; no. 6; pp. 417 - 419
Main Authors Li, You-Qiong, Ye, Li-Hua, Mo, Yun
Format Journal Article
LanguageEnglish
Published England Taylor & Francis 01.11.2016
Subjects
beta-Globins - genetics
Capillary electrophoresis
Diagnostic Errors
Electrophoresis, Capillary - methods
Female
Hb Köln
Hemoglobinopathies - diagnosis
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
high performance liquid chromatography
Humans
Point Mutation
Young Adult
Capillary electrophoresis
high performance liquid chromatography
Hb Köln
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0363-0269
1532-432X
DOI:10.1080/03630269.2016.1276930