Double heterozygosity of the beta-Malay and a novel beta-thalassemia gene in a Thai patient

Am J Hematol. 1991 Oct;38(2):142-4. doi: 10.1002/ajh.2830380214.

Abstract

The beta-globin genes from a Thai patient compound heterozygous for beta(+)- and beta zero-thalassemias were investigated. Amplification and DNA analysis of genomic DNA by the polymerase chain reaction procedure permitted the identification of the beta-Malay mutation (beta 19;AAC-AGC) in one allele and a novel beta zero-thalassemia mutation (41;TTC-TT) in another allele.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Child, Preschool
  • DNA
  • Female
  • Gene Amplification
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • Thailand
  • Thalassemia / genetics*

Substances

  • DNA