Ferrara beta 0 thalassaemia caused by the beta 39 nonsense mutation

Nature. 1984 Jan;307(5946):76. doi: 10.1038/307076a0.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Gene Expression Regulation
  • Globins / genetics*
  • Humans
  • Mutation
  • Suppression, Genetic
  • Thalassemia / genetics*

Substances

  • Globins