Novel beta-thalassemia trait (IVS I-1 G-->C) in a Japanese family

Am J Hematol. 2003 Jan;72(1):64-6. doi: 10.1002/ajh.10244.

Abstract

A rare beta-thalassemia mutation at the splicing junction [namely, G-->C in intervening sequence (IVS) I-1] was found in a Japanese family. The proband and his mother were heterozygous for the mutation. Analysis of mRNA extracted from the reticulocyte-rich fraction obtained from the proband's mother revealed that the mutant beta-globin gene did not produce any detectable, stable mRNA including exon 1 and exon 2, since the polymorphism in exon 1 on her mutant gene was not detected in the RT-PCR products.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Globins / genetics*
  • Humans
  • Japan
  • Male
  • Point Mutation*
  • RNA Splice Sites / genetics*
  • RNA, Messenger / analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • beta-Thalassemia / genetics*

Substances

  • RNA Splice Sites
  • RNA, Messenger
  • Globins