Ferrara beta 0 thalassaemia caused by the beta 39 nonsense mutation.
Ferrara beta 0 thalassaemia caused by the beta 39 nonsense mutation.
复制标题
Ferrara β 0 地中海贫血是由 β 39 无义突变引起的。
作者：
Pirastu,M;delSenno,L;Conconi,F;Vullo,C;Kan,YW
Ferrara型β- 0型地中海贫血有两个不同寻常的特点：第一，正常的β-珠蛋白链合成可以在从患者的网织红细胞中加入非地中海贫血网织红细胞溶解物的上清因子制备的无细胞系统中诱导，也可以在地中海贫血mRNA2的异源无细胞翻译中诱导；其次，β-珠蛋白的合成在输血后的患者体内是可诱导的3,4。我们现在描述了β-珠蛋白基因的分子损伤，这在9例法拉利β0地中海贫血中是常见的，但不能与诱导反应相协调。
Ferrara type ofβ0thalassaemia has two unusual features: first, normalβ-globin chain synthesis is inducible either in cell-free systems prepared from patients' reticulocytes by adding supernatant factors from non-thalassaemic reticulocyte lysates1or in heterologous cell-free translation of thalassaemic mRNA2; second,β-globin synthesis is inducible in patientsin vivoafter blood transfusion3,4. We now describe a molecular lesion of theβ-globin gene that is common to nine cases of Ferraraβ0thalassaemia but cannot be reconciled with the inducible response.