Hb Guangxi [ß65(E9)LysâGlu (AAG>GAG); HBB: c.196A>G]: A Novel ß-Globin Variant.
Hemoglobin
; 45(6): 349-350, 2021 Nov.
Article
em En
| MEDLINE
| ID: mdl-31437061
ABSTRACT
We report a novel variant found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region of the People's Republic of China. This variant can be readily detected by both cation exchange high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Sanger sequencing revealed a novel mutation on the ß-globin gene [ß65(E9)LysâGlu (AAG>GAG); HBB c.196A>G]. We named this novel hemoglobin (Hb) variant Hb Guangxi for the place of origin of the proband.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hemoglobinas Anormais
/
Globinas beta
Limite:
Female
/
Humans
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article