Molecular characteristics of a non-deletion alpha-thalassaemia of the Po River Delta

Eur J Biochem. 1981 May;116(1):127-30. doi: 10.1111/j.1432-1033.1981.tb05309.x.

Abstract

The form of alpha-thalassaemia of the Po river delta presents haematological and globin biosynthetic characteristics similar to alpha-thalassaemia-1 but never gives rise to HB H disease nor to hydrops foetalis. In alpha-thalassaemic subjects originally from this region globin mRNA translation and alpha-globin gene arrangement have been investigated. The data obtained indicate that alpha-globin synthesis and reticulocyte alpha-globin mRNA are reduced by one fourth; in addition, since the defect in alpha-globin synthesis does not change with cell ageing, a possible instability of alpha-globin mRNA is excluded. Restriction enzyme analysis of the DNA shows a normal alpha-globin gene organization. This form of alpha-thalassaemia is therefore of the non-deletion type; its molecular lesion is either at the level of alpha-globin mRNA transcription or processing. The fact that this, as well as other forms of non-deletion alpha-thalassaemia, have a phenotypic expression similar to alpha-thalassaemia 1 is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genes*
  • Globins / genetics*
  • Humans
  • Italy
  • Nucleic Acid Hybridization
  • Protein Biosynthesis
  • RNA, Messenger / genetics
  • Reticulocytes / metabolism
  • Thalassemia / genetics*

Substances

  • RNA, Messenger
  • Globins