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 |
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Pages (from-to) | 214-219 |
Number of pages | 6 |
Journal | Hemoglobin |
Volume | 33 |
Issue number | 3-4 |
DOIs | |
Publication status | Published - Jun 2009 |
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Keywords
- β-Thalassemia (β-thal)
- Deletion
- Mutation
- Novel
- Qatar
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical
Cite this
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
}
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 -