Delta +-thalassemia in Sardinia

Blood. 1983 Aug;62(2):341-5.

Abstract

We have defined a new type of delta-thalassemia in which beta-globin chain synthesis is incompletely suppressed. Homozygotes have unusually low HbA2 levels, and double heterozygosity for this delta-thalassemia gene and beta-thalassemia normalizes the HbA2 level. The delta-thalassemia occurs on a chromosome that is identifiable using polymorphic restriction endonuclease sites. We call this condition delta +-thalassemia, to distinguish it from the previously described delta 0-thalassemia syndromes in which no delta-globin chain synthesis occurs.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • DNA Restriction Enzymes / metabolism
  • Hemoglobin A2 / biosynthesis
  • Hemoglobins, Abnormal / biosynthesis
  • Heterozygote
  • Homozygote
  • Humans
  • Italy
  • Male
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / epidemiology*
  • Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Hemoglobin A2
  • DNA Restriction Enzymes