Non-thalassemic phenotype associated with the -83 (G > A) mutation of the ß-globin gene promoter (HBB: c.-133G > A).
Hemoglobin
; 38(6): 447-8, 2014.
Article
em En
| MEDLINE
| ID: mdl-25405919
ABSTRACT
The -83 (G > A) mutation of the ß-globin gene promoter (HBB c.-133G > A) was first reported in an adult male patient with mild thalassemic indices, suggesting that this may be a mild ß(+)-thalassemia (ß(+)-thal) allele. In this report, we present data from several patients who are simple heterozygotes for the -83 mutation, or compound heterozygotes for -83 and Hb S (HBB c.20A > T) or ß-thal. These cases illustrate that the -83 sequence variant is not associated with a thalassemic phenotype. This has important implications for carrier screening and genetic counseling, particularly since the -83 mutation is relatively common in African and Hispanic populations.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Regiões Promotoras Genéticas
/
Mutação Puntual
/
Globinas beta
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article