Disorders of Erythropoiesis

Quantitative assessment of the transcriptional impact of mutations in the 3’untranslated region of the human β-globin gene: application to the +1480 C→G mutation The +1480 C→G mutation in the 3 ’ untranslated region (UTR) of the human β-globin gene has been associated with β-thalassemia. A previously vali-dated in vitro expression model used to assess the transcriptional impact of this 3’UTR mutation demonstrated that it has no effect on β-globin gene expression. Haematologica 2006; 91:1563-1564 β−thalassemia is a genetic disorder characterized by the reduced production of β-globin chains, due to alter-ations within coding and non-coding sequences of the β