Article
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Blood - 29 Oct 2009
Galanello Renzo, Sanna Serena, Perseu Lucia, Sollaino Maria Carla, Satta Stefania, Lai Maria Eliana, Barella Susanna, Uda Manuela, Usala Gianluca, Abecasis Goncalo R, Cao Antonio
Abstract excerpt
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...
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