Abstract
Ferrara type of β0 thalassaemia has two unusual features: first, normal β-globin chain synthesis is inducible either in cell-free systems prepared from patients' reticulocytes by adding supernatant factors from non-thalassaemic reticulocyte lysates1 or in heterologous cell-free translation of thalassaemic mRNA2; second, β-globin synthesis is inducible in patients in vivo after blood transfusion3,4. We now describe a molecular lesion of the β-globin gene that is common to nine cases of Ferrara β0 thalassaemia but cannot be reconciled with the inducible response.
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Pirastu, M., del Senno, L., Conconi, F. et al. Ferrara β0 thalassaemia caused by the β39 nonsense mutation. Nature 307, 76 (1984). https://doi.org/10.1038/307076a0
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DOI: https://doi.org/10.1038/307076a0
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