血红蛋白四川型[α67（E16）苏氨酸→异亮氨酸，HBA2：c.203C>T]：一种可通过糖化血红蛋白电泳检测到的新型血红蛋白变异体。
Hb Sichuan [α67(E16)Thr→Ile, HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis.
作者信息
Xu An-Ping, Chen Wei-Dong, Li Jie, Zhou Yu, Zheng Ruo-Yang, Li Xiaofeng, Ji Ling
机构信息
a Department of Laboratory Medicine , Peking University Shenzhen Hospital , Shenzhen , Guangdong Province , People's Republic of China.
出版信息
Hemoglobin. 2018 Sep-Nov;42(5-6):330-332. doi: 10.1080/03630269.2018.1540352. Epub 2019 Jan 7.
We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II™ β-Thalassemia Short Program) showed no suspicious Hb variant. Sanger sequencing revealed a novel mutation [α67(E16)Thr→Ile, HBA2: c.203C>T]. We named this novel variant Hb Sichuan after the geographic origin of the proband.
我们报告了一名23岁中国汉族女性中的一种新型α2-珠蛋白链血红蛋白（Hb）变异体。该Hb变异体可通过糖化血红蛋白电泳（CapillaryS2，Hb A程序）检测到。然而，通过毛细管电泳（CE）（CapillaryS2，Hb程序）和高效液相色谱法（HPLC）（VARIANT II™β-地中海贫血短程序）分析的Hb组分未显示可疑的Hb变异体。桑格测序揭示了一种新的突变[α67（E16）苏氨酸→异亮氨酸，HBA2：c.203C>T]。我们根据先证者的地理来源将这种新变异体命名为Hb四川。
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