Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Blood
; 114(18): 3935-7, 2009 Oct 29.
Article
en En
| MEDLINE
| ID: mdl-19696200
ABSTRACT
Sardinian beta-thalassemia patients all are homozygotes for the same null allele in the beta-globin gene, but the clinical manifestations are extremely variable in severity. Previous studies have shown that the coinheritance of alpha-thalassemia or the presence of genetic variants that sustain fetal hemoglobin production has a strong impact on ameliorating the clinical phenotype. Here we evaluate the contribution of variants in the BCL11A, and HBS1L-MYB genes, implicated in the regulation of fetal hemoglobin, and of alpha-thalassemia coinheritance in 50 thalassemia intermedia and 75 thalassemia major patients. We confirm that alpha-thalassemia and allele C of single nucleotide polymorphism rs-11886868 in BCL11A were selectively represented in thalassemia intermedia patients. Moreover, allele G at single nucleotide polymorphism rs9389268 in the HBS1L-MYB locus was significantly more frequent in the thalassemia intermedia patients. This trio of genetic factors can account for 75% of the variation differences in phenotype severity.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
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Proteínas Portadoras
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Talasemia beta
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Talasemia alfa
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Proteínas Proto-Oncogénicas c-myb
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Polimorfismo de Nucleótido Simple
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Alelos
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Homocigoto
Límite:
Adolescent
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Adult
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Female
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Humans
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Male
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Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Blood
Año:
2009
Tipo del documento:
Article
País de afiliación:
Italia