Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene.
Clin Biochem
; 92: 77-81, 2021 Jun.
Article
em En
| MEDLINE
| ID: mdl-33675809
ABSTRACT
OBJECTIVE:
To describe a new mutation causing alpha thalassemia and its mechanism of action. DESIGN ANDMETHODS:
The propositus was a 37-year-old man who presented maintained microcytosis without iron deficiency. Molecular characterization was undertaken using automatic sequencing after testing negative for the most frequent α-globin mutations by multiplex PCR followed by reverse-hybridization.RESULTS:
The mutation is a single base substitution at codon 65 of the α1 globin gene [α65(E14) Ala>Pro; HBA1 c.196G>C] and leads to the substitution of a proline residue in the E helix. The resulting hemoglobin variant has been named Hb Maruchi. This new variant cannot be separated from Hb A by electrophoretic and chromatographic techniques.CONCLUSIONS:
The substitution α65(E14) Ala>Pro; HBA1 c.196G>C causes a α-thalassemia silent associated with a very mild phenotype. The diagnosis of this type of mutation is important because it may cause alpha thalassemia if inherited with other clinically relevant HBA1/HBA2 variants.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobinas Anormais
/
Talassemia alfa
/
Alfa-Globinas
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article