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 |
Keywords
- Deletion
- Mutation
- Novel
- Qatar
- β-Thalassemia (β-thal)
ASJC Scopus subject areas
- Hematology
- Clinical Biochemistry
- Genetics(clinical)
- Biochemistry, medical