A novel beta-thalassemia mutation in an Asian Indian

Hemoglobin. 2002 Feb;26(1):49-57. doi: 10.1081/hem-120002940.

Abstract

A novel 7 bp deletion in exon 2 of the beta-globin gene in a 9-year-old boy originating from the eastern part of India is described. This deletion causes a shift in the reading frame of the beta-globin coding sequences, and consequently, a premature translation termination due to the creation of a stop codon at position 86. A slipped strand mispairing during DNA replication repair is proposed as the potential mechanism in generating this small deletion.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Codon, Nonsense*
  • DNA Replication
  • Exons / genetics
  • Female
  • Frameshift Mutation*
  • Globins / genetics*
  • Humans
  • India
  • Male
  • Models, Genetic
  • Pedigree
  • Sequence Deletion*
  • beta-Thalassemia / genetics*

Substances

  • Codon, Nonsense
  • Globins