Two new beta0-thalassemic mutations: a deletion (-CC) at codon 142 or overlapping codons 142-143, and an insertion (+T) at codon 45 or overlapping codons 44-45/45-46 of the beta-globin gene

Hemoglobin. 2007;31(2):159-65. doi: 10.1080/03630260701277057.

Abstract

We report here two new beta(0)-thalassemic mutations. In the first case, a deletion of two nucleotides (-CC) at codon 142 was found in a French Caucasian woman. In the second case, an insertion of a single nucleotide (+T) at codon 45 was found in a Turkish girl. In both cases, no dominant thalassemia-like phenotype was observed.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Child
  • Codon / genetics*
  • DNA Primers
  • Female
  • Frameshift Mutation
  • Globins / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Mutation*
  • Polymerase Chain Reaction
  • Sequence Deletion
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • DNA Primers
  • Globins