ß0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].
Hemoglobin
; 48(1): 69-70, 2024 Jan.
Article
em En
| MEDLINE
| ID: mdl-38425097
ABSTRACT
We report two hemoglobinopathy cases involving a novel ß-thalassemia (ß-thal) nonsense mutation, HBBc.199A > T. One patient had Hb S/ß-thal, and a second unrelated patient had Hb D-Punjab/ß-thal. The HBBc.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAAâTAA) in exon 2, resulting in typical high Hb A2 ß0-thal.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Hemoglobinopatias
Limite:
Humans
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Canadá