title: 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.
authors.affiliation: a The Center of Reproduction and Genetic , People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , Guangxi , People's Republic of China.
authors.forename: You-Qiong
authors.initials: YQ
authors.lastname: Li
authors.affiliation: b Department of Clinical Laboratory , Laibing Maternal and Neonatal Hospital , Laibing , Guangxi , People's Republic of China.
authors.forename: Li-Hua
authors.initials: LH
authors.lastname: Ye
authors.affiliation: c Department of Obstetrics and Gynecology , People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , Guangxi , People's Republic of China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Mo
mesh_terms: D003951:Diagnostic Errors; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C034409:hemoglobin Koln; C035541:Hemoglobin Constant Spring
keywords: Capillary electrophoresis; Hb Köln; high performance liquid chromatography