Detection of the HBB: c.393T>G Mutation in Two Patients with Hypochromic Microcytic Anemia.
Hemoglobin
; 45(3): 150-153, 2021 May.
Article
em En
| MEDLINE
| ID: mdl-34034591
ABSTRACT
A novel mutation, HBB c.393T>G on the HBB gene, was detected in two hypochromic microcytic anemia patients from Yulin, in the Guangxi Province of the People's Republic of China (PRC), by next-generation sequencing (NGS). It is a nonsense mutation causing a stop codon at amino acid 131 in exon 3 of the HBB gene. It was found in a heterozygous state in two patients who both presented severe anemia during pregnancy and moderate anemia before pregnancy; Hb A2 levels were slightly increased (more than 4.0%) in both patients. It was also detected in the father of one of the patients. This mutation was pathogenic, and caused the dominant thalassemia-like phenotypes in the two patients.
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MEDLINE
Assunto principal:
Talassemia beta
/
Globinas beta
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article