Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion

N Engl J Med. 1986 Jan 9;314(2):76-9. doi: 10.1056/NEJM198601093140203.

Abstract

Hemolysates from adults with the alpha-thalassemia-1 haplotype due to the greater than 17.5-kb deletion of both alpha-globin genes from the same chromosome were found to contain embryonic zeta (zeta)-globin chains (alpha-globin-like chains), as determined by a specific and sensitive radioimmunoassay and an electrophoretic technique. zeta-Globin chains were not present in hemolysates from adults with deletion of a single alpha-globin gene from one or both chromosomes. These results indicate that zeta-globin chains, which can be assayed by immunologic techniques, can serve as markers for the alpha-thalassemia-1 haplotype due to the greater than 17.5-kb deletion. The ability to detect zeta-globin chains may be useful in populations in which the gene frequency of the greater than 17.5-kb deletion is high, for screening couples at risk of having offspring with homozygous alpha-thalassemia.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / analysis
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Globins / genetics*
  • Haploidy
  • Humans
  • Infant
  • Male
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA