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

Research output: Contribution to journal › Article

2 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

Fingerprint

Exons
Alleles
Thalassemia
Terminator Codon
Point Mutation
Introns

Keywords

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

ASJC Scopus subject areas

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

Cite this

Al-Obaidli, A., Gerard, N., Al Zadjali, S., Fawzi, Z., Pravin, S., Pathare, A., & Krishnamoorthy, R. (2009). A novel deletional β-thalassemic variant in an ethnic Qatari patient. Hemoglobin, 33(3-4), 214-219. https://doi.org/10.1080/03630260903081398

A novel deletional β-thalassemic variant in an ethnic Qatari patient. / Al-Obaidli, Aisha; Gerard, Nathalie; Al Zadjali, Shoaib; Fawzi, Zainab; Pravin, Sahaya; Pathare, Anil; Krishnamoorthy, Rajagopal.

In: Hemoglobin, Vol. 33, No. 3-4, 06.2009, p. 214-219.

Research output: Contribution to journal › Article

Al-Obaidli, A, Gerard, N, Al Zadjali, S, Fawzi, Z, Pravin, S, Pathare, A & Krishnamoorthy, R 2009, 'A novel deletional β-thalassemic variant in an ethnic Qatari patient', Hemoglobin, vol. 33, no. 3-4, pp. 214-219. https://doi.org/10.1080/03630260903081398
Al-Obaidli A, Gerard N, Al Zadjali S, Fawzi Z, Pravin S, Pathare A et al. A novel deletional β-thalassemic variant in an ethnic Qatari patient. Hemoglobin. 2009 Jun;33(3-4):214-219. https://doi.org/10.1080/03630260903081398
Al-Obaidli, Aisha ; Gerard, Nathalie ; Al Zadjali, Shoaib ; Fawzi, Zainab ; Pravin, Sahaya ; Pathare, Anil ; Krishnamoorthy, Rajagopal. / A novel deletional β-thalassemic variant in an ethnic Qatari patient. In: Hemoglobin. 2009 ; Vol. 33, No. 3-4. pp. 214-219.
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