Center for Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.
Department of Clinical Medical Laboratory, Cenxi Women and Children Care Hospital, Wuzhou, People's Republic of China.
Hemoglobin. 2021 Jul;45(4):262-264. doi: 10.1080/03630269.2020.1716785. Epub 2020 Jan 27.
We report a novel mutation on the β-globin gene in a female of the Chinese population. This mutation produces a β-globin variant that can be detected by the capillary electrophoresis (CE) method, but coelutes with Hb A by high performance liquid chromatography (HPLC). DNA sequencing showed a mutation of codon 46 and it was named Hb Cenxi [β46(CD5)Gly→Arg (GG>GG), : c.139G>C] for the city of birth of the proband. She presented normal hematological parameters.
我们报道了一个中国女性β-珠蛋白基因的新突变。该突变产生了一种β-珠蛋白变异体，可通过毛细管电泳（CE）方法检测到，但与高效液相色谱（HPLC）法的 HbA 共洗脱。DNA 测序显示密码子 46 发生突变，命名为 Hb Cenxi [β46(CD5)Gly→Arg (GG>GG), : c.139G>C]，以先证者出生地的城市命名。她的血液学参数正常。
