title: Hb A2' (Hb B2) in the Omani population and diagnostic significance.
abstract: Hb A(2)' [δ16(A13)Gly→Arg], also called Hb B2, is a δ-globin chain variant that has been identified in several populations of African origin or ancestry and is easily identifiable in alkaline acetate cellulose electrophoresis as doubling of the Hb A(2) band. However, in high performance liquid chromatography (HPLC), commonly employed nowadays, it elutes in the S window. Over a period of 2 years at the Sultan Qaboos University Hospital, Muscat, Oman, we identified 25 Omanis with this variant. The quantity of Hb A(2) ranged from 0.9 to 1.8% in heterozygotes and was undetectable in the single homozygous case. As both α- and β-thalassemia (α- and β-thal) as well as Hb S [β6(A3)Glu→Val] are common in the Omani population, it is important to be aware of the presence of Hb A(2)' in this population to avoid misinterpretation of the HPLC data in terms of underdiagnosis of β-thal carriers and overestimation of α-thal based on Hb A(2) levels in sickle cell carriers. The haplotype associated with Hb A(2)' in Oman is identical to that described in African populations, suggesting a common origin for this mutation and its introduction into Oman by gene flow.
authors.affiliation: Department of Hematology, Sultan Qaboos University, Muscat, Oman.
authors.forename: Shahina
authors.initials: S
authors.lastname: Daar
authors.forename: Shoaib
authors.initials: S
authors.lastname: Al Zadjali
authors.forename: David
authors.initials: D
authors.lastname: Gravell
authors.forename: Hamood
authors.initials: H
authors.lastname: Al Haddabi
authors.forename: Muna
authors.initials: M
authors.lastname: Al Riyami
authors.forename: Abeer
authors.initials: A
authors.lastname: Al Belushi
authors.forename: Tsouria
authors.initials: T
authors.lastname: Berbar
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Krishnamoorthy
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon; D005838:Genotype; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D009850:Oman; D017354:Point Mutation; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*; D055547:epsilon-Globins / Q000235:genetics
chemical_list: D003062:Codon; D055547:epsilon-Globins; D006443:Hemoglobin A2