A single nucleotide polymorphism in the HBBP1 gene in the human ß-globin locus is associated with a mild ß-thalassemia disease phenotype.
Hemoglobin
; 36(5): 433-45, 2012.
Article
em En
| MEDLINE
| ID: mdl-22943111
ABSTRACT
The rs2071348 (g.5264146A>C) polymorphism on the HBB pseudogene, namely HBBP1, previously emerged as a variant significantly associated with a milder disease phenotype in Asian ß(0)-thalassemia/hemoglobin (Hb) E (ß(0)-thal/Hb E [ß26(B8)GluâLys, GAG>AAG]) patients. In this study, we aimed to explore the possible association of rs2071348 with ß-thalassemia (ß-thal) disease severity in a group of ß-thal major (ß-TM) patients (severe phenotype) and ß-thal intermedia (ß-TI) patients (mild phenotype) of Hellenic origin and compare the results with normal (non thalassemic) individuals of the same origin. In addition, we explored whether this single nucleotide polymorphism (SNP) can be exploited as a pharmacogenomic marker to predict the outcome of Hb F-augmenting therapy in ß-thal patients receiving hydroxyurea (HU). Our data suggest that the rs2071348 polymorphism is associated with higher Hb F levels and a milder ß-thal disease phenotype. However, the rs2071348 polymorphism in the HBBP1 gene does not correlate with response to HU treatment.
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Bases de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Pseudogenes
/
Talassemia beta
/
Polimorfismo de Nucleotídeo Único
/
Globinas beta
/
Loci Gênicos
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Grécia