血红蛋白湖北型[α114（GH2）脯氨酸→组氨酸，HBA1：c.344C>A]：一种新型的α1-珠蛋白链血红蛋白变异体
Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain.
作者信息
Xu An-Ping, Li Jie, Chen Wei-Dong, Zhou Yu, Ji Ling
机构信息
a Department of Clinical Medical Laboratory , Peking University Shenzhen Hospital , Shenzhen , Guangdong Province , People's Republic of China.
出版信息
Hemoglobin. 2018 May;42(3):206-208. doi: 10.1080/03630269.2018.1502197. Epub 2018 Oct 2.
We report here a novel α1-globin chain variant, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A], in a Chinese individual. The proband, a 28-year-old Chinese female, was discovered following routine Hb A analysis using cation exchange high performance liquid chromatography (HPLC). Sanger sequencing revealed a novel missense mutation, HBA1: c.344C>A (CCC>CAC), in exon 2 of the α1-globin gene. The mutation caused a transition of proline to histidine at position α114(GH2) on the α1-globin chain. This new variant was named Hb Hubei after the geographic origin of the proband.
我们在此报告在中国个体中发现的一种新型α1-珠蛋白链变异体，即Hb湖北[α114(GH2)脯氨酸→组氨酸，HBA1: c.344C>A]。先证者为一名28岁的中国女性，通过阳离子交换高效液相色谱法（HPLC）进行常规血红蛋白A分析时被发现。桑格测序显示在α1-珠蛋白基因第2外显子中存在一个新的错义突变，HBA1: c.344C>A（CCC>CAC）。该突变导致α1-珠蛋白链上α114(GH2)位置的脯氨酸转变为组氨酸。这个新变异体根据先证者的地理来源被命名为Hb湖北。
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