Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros

Base de dados
Ano de publicação
Tipo de documento
Intervalo de ano de publicação
1.
Hemoglobin ; 46(6): 344-346, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36847654

RESUMO

We report a novel hemoglobin (Hb) variant found in a Spanish individual from Santa Cruz de Tenerife, the Canary Islands in Spain. The proband was a 39-year-old male. High performance liquid chromatography (HPLC) displayed an unknown peak (19.3%) at a retention time of 1.3 min. eluting before Hb A0. Capillary zone electrophoresis (CZE) showed an abnormal peak (20.0%) in zone 12. Direct DNA sequencing of the α-globin genes revealed heterozygosity for a nonsense mutation at codon 139 (AAA>TAA), causing a lysine to stop codon substitution [α139(HC1)Lys→Stop; HBA1: c.418A>T]. We decided to name the variant Hb Nivaria (Tenerife) for the place of birth and residence of the proband.


Assuntos
Hemoglobinas , Lisina , Masculino , Humanos , Adulto , Hemoglobinas Glicadas , Cromatografia Líquida de Alta Pressão , Eletroforese Capilar
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA