Abstract
HOMOZYGOUS β-thalassaemic subjects from the Ferrara region characteristically do not synthesise β globin1,2. Some of us have presented previously data which suggest that the addition of ribosome-free supernatant isolated from red blood cells of normal adult individuals or from subjects with homozygous haemoglobin S to Ferrara thalassaemic ribosomal material induces βA globin synthesis3; these results suggested that this de novo synthesis was not associated with free normal βA globin mRNA. From these findings it has been concluded that the mutation of the Ferrara β thalassaemia does not reside inthe gene for β globin, which is in fact transcribed into normal β globin mRNA; but in a gene coding for a previously unrecognised factor, indispensable for β globin translation. Here we report data which suggest that the reticulocytes from these patients synthesise β globin following normal blood transfusion.
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CONCONI, F., DEL SENNO, L., FERRARESE, P. et al. Appearance of β globin synthesis in erythroid cells of Ferrara β°-thalassaemic patients following blood transfusion. Nature 254, 256–259 (1975). https://doi.org/10.1038/254256a0
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DOI: https://doi.org/10.1038/254256a0
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