Ferrara beta 0 thalassaemia caused by the beta 39 nonsense mutation.
Ferrara type of beta 0 thalassaemia has two unusual features: first, normal beta-globin chain synthesis is inducible either in cell-free systems prepared from patients' reticulocytes by adding supernatant factors from non-thalassaemic reticulocyte lysates or in heterologous cell-free translation of thalassaemic mRNA; second, beta-globin synthesis is inducible in patients in vivo after blood transfusion. We now describe a molecular lesion of the beta-globin gene that is common to nine cases of Ferrara beta 0 thalassaemia but cannot be reconciled with the inducible response.
D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D013489:Suppression, Genetic; D013789:Thalassemia / Q000235:genetics*
D005914:Globins