A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype

Hemoglobin. 2007;31(3):393-5. doi: 10.1080/03630260701462162.

Abstract

The beta-globin gene of 306 newly diagnosed beta-thalassemia (thal) minor patients were sequenced. Analysis revealed that only one amongst all the identified mutations had not been previously reported. This new mutation, causing a beta(+)-thal minor phenotype, was found in a patient of Arabic origin. The insertion frameshift mutation (+A) between codons 45 and 46 [codons 45/46 (+A)] results in a premature termination signal at codon 52. No truncated beta-globin or abnormal hemoglobin (Hb) was identified.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arabs / genetics
  • Codon
  • DNA Mutational Analysis
  • Female
  • Globins / genetics*
  • Humans
  • Mutation*
  • Phenotype
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Globins