Delta beta (F)-thalassaemia in Sardinia

J Med Genet. 1982 Jun;19(3):184-92. doi: 10.1136/jmg.19.3.184.

Abstract

A population survey carried out in southern sardinia on more than 5000 people has shown that delta beta (F)-thalassaemia, with a gene frequency of 0-00088, is a rare trait in this population. We examined the members of three families segregating for both delta beta- and beta(0)-thalassemia and a number of delta beta carriers identified during the screening. The doubly heterozygous children suffer from a mild form of Cooley's disease with non-alpha/alpha biosynthetic ratios within the range of values observed in beta (0)-thalassaemia homozygotes. Three of them have been transfusion dependent for some time. The delta beta carriers, although in many respects showing the usual picture of delta beta-thalassaemia, such as abnormal red cell indices, normal Hb A2, Hb F heterogeneously distributed in the erythrocytes, and low beta/alpha synthetic ratios, have unusually high levels of Hb F (range 10 to 20%) and particularly low glycine content (range 0.02 to 0.14 residues) in the isolated gamma CB3 peptide. These results have led us to the conclusion that the delta beta-thalassaemia found in Sardinia is different from the similar kind of delta beta defect found in Negroes and in other Mediterranean populations, including continental Italians.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Fetal Hemoglobin / analysis
  • Gene Frequency
  • Genes
  • Globins / genetics
  • Hemoglobin A2 / analysis
  • Heterozygote
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Globins
  • Hemoglobin A2
  • Fetal Hemoglobin