Variants in genetic modifiers of ß-thalassemia can help to predict the major or intermedia type of the disease.
Haematologica
; 96(11): 1712-4, 2011 Nov.
Article
em En
| MEDLINE
| ID: mdl-21791466
ABSTRACT
A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity i) ß-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of thalassemia Intermedia phenotype associated with the different combinations of alleles. The presence or absence of the favorable alleles could accurately predict the type of thalassemia in 83.2% of the cases. The percentage of correct predictions made from the ß-thalassemia mutations and the XmnI SNP alone were significantly improved by the adjustment with the 3 other modifiers; from 73.6% to 83.2% (P<0.001). In this study, we showed that predictions based on genetic modifiers can foresee the Major or Intermedia type of ß-thalassemia, even in cohorts of patients with various ß-globin genotypes.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Proteínas de Transporte
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Sistema de Registros
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Talassemia beta
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Proteínas Proto-Oncogênicas c-myb
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Polimorfismo de Nucleotídeo Único
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Mutação
Tipo de estudo:
Clinical_trials
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article