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.
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| http://dx.doi.org/10.1080/03630269.2020.1716785 | DOI Listing |
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