Article
Molecular spectrum of α-globin gene defects in the Omani population.
Hemoglobin - 1 Jan 2014
Hassan Suha M, Harteveld Cornelis L, Bakker Egbert, Giordano Piero C
Abstract excerpt
We describe the molecular characterization of α-globin gene defects in a cohort of 634 Omani patients. A total of 21 different α gene mutations were found in 484 subjects. Overall, we identified three different large deletions, three small deletions, 11 point mutations [two on the α2 polyadenylation signal (polyA) (HBA2: c.*94A>G), and nine α chain variants], three ααα(anti 3.7) triplication, a 21 nucleotide (nt)...
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