First Detection of Hb Cenxi [β46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] by Capillary Electrophoresis.
You-Qiong LiYan-Wei LiLiang LiangMing-Hui MengXiu-Qun ZhangPublished in: Hemoglobin (2020)
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 A2 by high performance liquid chromatography (HPLC). DNA sequencing showed a mutation of codon 46 and it was named Hb Cenxi [β46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] for the city of birth of the proband. She presented normal hematological parameters.
Keyphrases
- capillary electrophoresis
- mass spectrometry
- high performance liquid chromatography
- liquid chromatography
- simultaneous determination
- tandem mass spectrometry
- solid phase extraction
- high resolution
- ms ms
- circulating tumor
- genome wide
- copy number
- gene expression
- cell free
- transcription factor
- loop mediated isothermal amplification
- nucleic acid
- real time pcr
- circulating tumor cells