广西血红蛋白[β65（E9）赖氨酸→谷氨酸（>AG）；：c.196A>G]：一种新型β-珠蛋白变体。
Hb Guangxi [β65(E9)Lys→Glu (>AG); : c.196A>G]: A Novel β-Globin Variant.
作者信息
Xu Miao, Chen Wei-Dong, Wang Ya-Jun, Zhou Yu, Li Jie, Xu An-Ping, Ji Ling
机构信息
Department of Laboratory Medicine, Weifang People's Hospital, Weifang, Shandong, People's Republic of China.
Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China Guangdong.
出版信息
Hemoglobin. 2021 Nov;45(6):349-350. doi: 10.1080/03630269.2019.1653907. Epub 2019 Aug 22.
We report a novel variant found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region of the People's Republic of China. This variant can be readily detected by both cation exchange high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Sanger sequencing revealed a novel mutation on the β-globin gene [β65(E9)Lys→Glu (AG>AG); : c.196A>G]. We named this novel hemoglobin (Hb) variant Hb Guangxi for the place of origin of the proband.
我们报告了在中国广西壮族自治区桂林市一名女性中发现的一种新型变体。这种变体可以通过阳离子交换高效液相色谱法（HPLC）和毛细管电泳法（CE）轻松检测到。桑格测序揭示了β-珠蛋白基因上的一个新突变[β65（E9）赖氨酸→谷氨酸（AG>AG）；：c.196A>G]。我们将这种新型血红蛋白（Hb）变体命名为Hb广西，以先证者的出生地命名。
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