Ontology highlight
ABSTRACT:
SUBMITTER: Galanello R
PROVIDER: S-EPMC2925722 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
Galanello Renzo R Sanna Serena S Perseu Lucia L Sollaino Maria Carla MC Satta Stefania S Lai Maria Eliana ME Barella Susanna S Uda Manuela M Usala Gianluca G Abecasis Goncalo R GR Cao Antonio A
Blood 20090820 18
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 fet ...[more]