Hb Nivaria: A New Hemoglobin Variant with a Shortened α-Globin Chain [α139(HC1)LysâStop; HBA1: c.418A>T].
Hemoglobin
; 46(6): 344-346, 2022 Nov.
Article
em En
| MEDLINE
| ID: mdl-36847654
ABSTRACT
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)LysâStop; HBA1 c.418A>T]. We decided to name the variant Hb Nivaria (Tenerife) for the place of birth and residence of the proband.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobinas
/
Lisina
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article