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

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

ASJC Scopus subject areas

Hematology
Clinical Biochemistry
Genetics(clinical)
Biochemistry, medical

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10.1080/03630260903081398

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

author = "Aisha Al-Obaidli and Nathalie Gerard and {Al Zadjali}, Shoaib and Zainab Fawzi and Sahaya Pravin and Anil Pathare and Rajagopal Krishnamoorthy",

note = "Funding Information: The study was supported by INSERM through “Green position (poste vert) for foreign training programme” (to A. Sahaya Pravin, PhD, MSc).",

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doi = "10.1080/03630260903081398",

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TY - JOUR

T1 - A novel deletional β-thalassemic variant in an ethnic Qatari patient

AU - Al-Obaidli, Aisha

AU - Gerard, Nathalie

AU - Al Zadjali, Shoaib

AU - Fawzi, Zainab

AU - Pravin, Sahaya

AU - Pathare, Anil

AU - Krishnamoorthy, Rajagopal

N1 - Funding Information: The study was supported by INSERM through “Green position (poste vert) for foreign training programme” (to A. Sahaya Pravin, PhD, MSc).

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 - Deletion

KW - Mutation

KW - Novel

KW - Qatar

KW - β-Thalassemia (β-thal)

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DO - 10.1080/03630260903081398

M3 - Article

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SN - 0363-0269

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JO - Hemoglobin

JF - Hemoglobin

IS - 3-4

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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