1.
Hemoglobin
; 45(4): 262-264, 2021 Jul.
Article
in English
| MEDLINE
| ID: mdl-31985312
ABSTRACT
We report a novel mutation on the ß-globin gene in a female of the Chinese population. This mutation produces a ß-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 [ß46(CD5)GlyâArg (GGG>CGG), HBB: c.139G>C] for the city of birth of the proband. She presented normal hematological parameters.