Multiple mutations produce delta beta 0 thalassemia in Sardinia

Science. 1984 Mar 2;223(4639):929-30. doi: 10.1126/science.6198720.

Abstract

In Sardinia the common form of beta thalassemia is a beta 0 thalassemia due to a nonsense mutation at codon 39. delta beta 0 Thalassemia is rare in Sardinia and is associated with increased production of hemoglobin F of the A gamma type. In this study we used a synthetic oligomer assay and detected the beta 39 nonsense mutation on the delta beta 0 thalassemia chromosome. Hence at least two different mutations have occurred on this chromosome; one that increases A gamma globin synthesis and another that silences the beta globin gene.

Publication types

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

MeSH terms

  • Chromosomes, Human
  • Fetal Hemoglobin / genetics
  • Genes
  • Genotype
  • Globins / genetics*
  • Humans
  • Italy
  • Mutation*
  • Pedigree
  • Thalassemia / genetics*

Substances

  • Globins
  • Fetal Hemoglobin