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 | |
| 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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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