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

doi:10.1080/03630260903081398

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

Haematology

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	214-219
Number of pages	6
Journal	Hemoglobin
Volume	33
Issue number	3-4
DOIs	https://doi.org/10.1080/03630260903081398
Publication status	Published - 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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title = "A novel deletional β-thalassemic variant in an ethnic Qatari patient",

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.",

keywords = "β-Thalassemia (β-thal), Deletion, Mutation, Novel, Qatar",

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AU - Al-Obaidli, Aisha

AU - Gerard, Nathalie

AU - Al Zadjali, Shoaib

AU - Fawzi, Zainab

AU - Pravin, Sahaya

AU - Pathare, Anil

AU - Krishnamoorthy, Rajagopal

PY - 2009/6

Y1 - 2009/6

N2 - 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.

AB - 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.

KW - β-Thalassemia (β-thal)

KW - Deletion

KW - Mutation

KW - Novel

KW - Qatar

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JF - Hemoglobin

SN - 0363-0269

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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