Alpha globin gene triplication in severe heterozygous beta thalassemia

Acta Haematol. 1985;74(4):236-9. doi: 10.1159/000206230.

Abstract

In an Algerian family, three sibs with an unusually severe heterozygous beta-thalassemia and two sibs with a typical heterozygous beta-thalassemia were found. Both conditions were transmitted vertically. Globin chain synthesis and DNA restriction enzyme analysis showed that the unusual severity of heterozygous beta-thalassemia observed in this family is related to an overproduction of alpha-globin chains originating from an alpha-globin gene triplication.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Algeria / ethnology
  • Child
  • Child, Preschool
  • DNA / blood
  • DNA Restriction Enzymes
  • Female
  • Genes*
  • Globins / genetics*
  • Hemoglobins / analysis
  • Heterozygote*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Hemoglobins
  • Globins
  • DNA
  • DNA Restriction Enzymes