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 Blood, 29 October 2009, Vol. 114, No. 18, pp. 3935-3937.
Prepublished online as a Blood First Edition Paper on August 20, 2009; DOI 10.1182/blood-2009-04-217901.

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RED CELLS, IRON, AND ERYTHROPOIESIS

Brief report

Amelioration of Sardinian β0 thalassemia by genetic modifiers

Renzo Galanello1, Serena Sanna2, Lucia Perseu2, Maria Carla Sollaino1, Stefania Satta1, Maria Eliana Lai3, Susanna Barella1, Manuela Uda2, Gianluca Usala2, Goncalo R. Abecasis4, and Antonio Cao2

1 Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Ospedale Regionale Microcitemie ASL Cagliari, Cagliari, Italy; 2 Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy; 3 Dipartimento Medicina Interna-Università di Cagliari, Cagliari, Italy; and 4 Center for Statistical Genetics, University of Michigan, Ann Arbor

Sardinian β-thalassemia patients all are homozygotes for the same null allele in the β-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.


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