title: Molecular spectrum of α-globin gene defects in the Omani population.
abstract: 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) duplication on the α1 gene and two novel (presumed) polymorphisms on the α 3.7 kb hybrid gene, namely -5 (C>T) and +46 (C>A). Of these defects, 15 have not been previously reported in the Omani population. This large heterogeneity of α-thalassemia (α-thal) observed in the Omani population could be expected in neighboring Arab countries. The high frequency of α-thal, solely or in association with β-globin gene defects, emphasize the necessity of adding α-thal testing to pre marital programs for accurate genetic counseling.
authors.affiliation: Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.
authors.forename: Suha M
authors.initials: SM
authors.lastname: Hassan
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Egbert
authors.initials: E
authors.lastname: Bakker
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D016022:Case-Control Studies; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009850:Oman / Q000453:epidemiology; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins
keywords: Oman; α gene mutation spectrum; α variant; α-thalassemia (α-thal)