Decay of β-globin synthesis in heterozygous β 0 Ferrara thalassaemia

In heterozygotes for Ferrara β 0 thal the expression of the β-globin genes has been investigated and compared with other forms of heterozygous thalassaemia. In Ferrara heterozygous the amount of hybridizable β-globin mRNA is definitely higher than in subjects with a deletion of one β-globin gene (δ β thalassaemia), suggesting that both β-globin genes are transcribed. Despite the higher levels of hybridizable β mRNA, higher amounts of β-globin synthesis relative to α are observed only in young and not in old reticulocyte fractions, both in intact cells and in cell-free incubations. Since the amount of β-globin synthesis relative to α decreases with cell age in Ferrara and not in the other heterozygotes studied, a progressive decay of β-globin mRNA translation in Ferrara thalassaemia is proposed.