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

Haematology

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 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

Fingerprint

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

@article{2498a4329dc24cef9bd8e59b62bc7ab5,

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",

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

year = "2009",

month = "6",

doi = "10.1080/03630260903081398",

language = "English",

volume = "33",

pages = "214--219",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Informa Healthcare",

number = "3-4",

}

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

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

UR - http://www.scopus.com/inward/record.url?scp=68849132582&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=68849132582&partnerID=8YFLogxK

U2 - 10.1080/03630260903081398

DO - 10.1080/03630260903081398

M3 - Article

C2 - 19657835

AN - SCOPUS:68849132582

VL - 33

SP - 214

EP - 219

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 3-4

ER -

Access to Document

10.1080/03630260903081398