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)
• Mutation
• Novel
• Deletion
• Qatar