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

Aisha Al-Obaidli, Nathalie Gerard, Shoaib Al Zadjali, Zainab Fawzi, Sahaya Pravin, Anil Pathare, Rajagopal Krishnamoorthy*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

Point mutations are responsible for the majority of the disease-causing alleles in β-thalassemia (β-thal) worldwide. We report here a novel deletional variant β-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.

Original languageEnglish
Pages (from-to)214-219
Number of pages6
JournalHemoglobin
Volume33
Issue number3-4
DOIs
Publication statusPublished - Jun 2009

Keywords

  • β-Thalassemia (β-thal)
  • Deletion
  • Mutation
  • Novel
  • Qatar

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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