A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia

Haematologica. 2005 Nov:90 Suppl:ECR20.

Abstract

A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Codon / genetics
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Frameshift Mutation*
  • Globins / genetics*
  • Humans
  • Male
  • Mutagenesis, Insertional*
  • Phenotype
  • Sequence Analysis, DNA
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Codon, Nonsense
  • Globins