title: Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T].
abstract: We report two new hemoglobin (Hb) variants; one causing an impairment of the N-terminal glycation of the β-globin chain and the other a hematological phenotype of α-thalassemia (α-thal). The first variant is Hb Aix-les-Bains [β5(A2)Pro→Leu] and the second Hb Dubai [α122(H5)His→Leu (α2)]. These two new Hb variants were detected by chromatographic and electrophoretic methods and characterized by molecular studies. Hb Dubai gives an α-thalassemic phenotype and should be routinely detected for preventing severe Hb H disease in couples at-risk for α-thal.
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Caroline
authors.initials: C
authors.lastname: Garcia
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Nicole
authors.initials: N
authors.lastname: Couprie
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D005260:Female; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins; D055544:beta-Globins; D006443:Hemoglobin A2