First Detection of Hb Cenxi [β46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] by Capillary Electrophoresis.

Abstract excerpt

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...

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