Article
Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.
Blood cells, molecules & diseases - 1 Apr 2015
Pereira Clara, Relvas Luís, Bento Celeste, Abade Augusto, Ribeiro M Letícia, Manco Licínio
Abstract excerpt
Three major loci have been associated with HbF levels, including -158C/T (XmnI) at HBG2 promoter region, and several polymorphisms at BCL11A intron-2 and HBS1L-MYB (HMIP) intergenic region. Mutations in the KLF1 gene were recently associated with increased HbF levels. This study aims to evaluate whether genetic variability at these loci influences HbF levels in β-thalassemia carriers and in normal individuals of...
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