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RED CELLS, IRON, AND ERYTHROPOIESIS Brief report
 

Summary: RED CELLS, IRON, AND ERYTHROPOIESIS
Brief report
Amelioration of Sardinian 0 thalassemia by genetic modifiers
Renzo Galanello,1 Serena Sanna,2 Lucia Perseu,2 Maria Carla Sollaino,1 Stefania Satta,1 Maria Eliana Lai,3
Susanna Barella,1 Manuela Uda,2 Gianluca Usala,2 Goncalo R. Abecasis,4 and Antonio Cao2
1Dipartimento di Scienze Biomediche e Biotecnologie, Universita` di Cagliari, Ospedale Regionale Microcitemie ASL Cagliari, Cagliari, Italy; 2Istituto di
Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy; 3Dipartimento Medicina Interna-Universita` di Cagliari, Cagliari, Italy;
and 4Center for Statistical Genetics, University of Michigan, Ann Arbor
Sardinian -thalassemia patients all are
homozygotes for the same null allele in
the -globin gene, but the clinical manifes-
tations are extremely variable in severity.
Previous studies have shown that the
coinheritance of -thalassemia or the
presence of genetic variants that sustain
fetal hemoglobin production has a strong
impact on ameliorating the clinical pheno-
type. Here we evaluate the contribution of
variants in the BCL11A, and HBS1L-MYB
genes, implicated in the regulation of

  

Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan

 

Collections: Biology and Medicine; Mathematics