Phenotype of mutations in the promoter region of the ß-globin gene.
J Clin Pathol
; 70(10): 874-878, 2017 Oct.
Article
em En
| MEDLINE
| ID: mdl-28385923
ABSTRACT
BACKGROUND:
ß+-Thalassaemia is characterised by reduced production of ß chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of ß-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far.AIMS:
In this report we describe the mutations found in the promoter region of the ß-globin gene in a single hospital in Madrid.METHODS:
Between 1998 and 2015, more than 9000 blood samples were analysed for full blood count and underwent haemoglobin electrophoresis and high performance liquid chromatography. Genetic analysis of the ß and Gγ-globin genes was carried out by automatic sequencing and, in the case of α genes, by multiplex PCR.RESULTS:
35 samples showed mutation in the promoter region of the ß-globin gene, with a total of six different mutations identified one in the distal CACCC box, two in the proximal CACCC box, three in the ATA box.CONCLUSIONS:
Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the ß-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Regiões Promotoras Genéticas
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Talassemia beta
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Globinas beta
Limite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
J Clin Pathol
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Espanha