A novel deletional beta-thalassemic variant in an ethnic Qatari patient.

Point mutations are responsible for the majority of the disease-causing alleles in beta-thalassemia (beta-thal) worldwide. We report here a novel deletional variant beta-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.