A novel deletional beta-thalassemic variant in an ethnic Qatari patient

Hemoglobin. 2009;33(3):214-9. doi: 10.1080/03630260903081398.

Abstract

Point mutations are responsible for the majority of the disease-causing alleles in beta-thalassemia (beta-thal) worldwide. We report here a novel deletional variant beta-thal allele in an ethnic Qatari patient, hitherto unreported in the literature. The deletion spans exon 1, the entire intron 1 and the first two bases of exon 2 causing a frameshift and the premature appearance of a stop codon.

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Humans
  • Point Mutation*
  • Qatar
  • Sequence Deletion*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / pathology