A Novel -72 (TâA) ß-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote.
Biomed Res Int
; 2017: 4537409, 2017.
Article
em En
| MEDLINE
| ID: mdl-28503568
ABSTRACT
We report a novel ß+-thalassemia mutation found in a Vietnamese family. The molecular defect TâA lies at -72 of the ß-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated ß allele was inferred by luciferase reporter assay in K562 cells. The ß -72 determinant is the eighth ß-thalassemic mutation identified in Vietnam and it was not previously reported in any population. The absence of homozygous or compound heterozygous states did not allow us to precisely predict either its clinical impact or its relevance in management programs. Our results further underline the importance of identifying and characterizing new or rare ß+-thalassemic alleles in carrier screening and prenatal diagnosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Globinas beta
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Mutação
Limite:
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Biomed Res Int
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Itália