Alpha zero- and beta zero-thalassemia in a Thai family: unusually mild homozygous beta zero-thalassemia without alpha-globin gene deletion

Hum Genet. 1985;69(4):375-7. doi: 10.1007/BF00291658.

Abstract

Alpha-globin genes were analyzed by the direct method of DNA mapping using alpha- and zeta-globin specific probes in a Thai family in which the proposita was an unusually mild beta zero-thalassemia homozygote. alpha zero-Thalassemia was found to be segregating in the family, inherited from the proposita's father by one of her younger sisters. However, alpha zero-thalassemia was not detected by this DNA mapping in the proposita. The mild homozygous beta zero-thalassemia in this family may result from interactions of a non-deletion alpha-thalassemia, a gene responsible for high proteolytic activity permitting more balanced globin-chain levels, or from an unusually active hemoglobin F production in the proposita.

Publication types

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

MeSH terms

  • Chromosome Deletion*
  • DNA Restriction Enzymes
  • Female
  • Fetal Hemoglobin / analysis
  • Globins / biosynthesis
  • Globins / genetics*
  • Hemoglobin A2 / analysis
  • Homozygote
  • Humans
  • Male
  • Thailand
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Globins
  • Hemoglobin A2
  • Fetal Hemoglobin
  • DNA Restriction Enzymes