title: Hb Riesa or β93 (F9) Cys→Ser, a new electrophoretically silent haemoglobin variant interfering with haemoglobin A1c measurement.
abstract: A new β variant was found in a German diabetic patient whose blood samples appeared to contain 45% Hb A(1c) using Bio-Rad Variant V-II A1c-analyzer but 7.6% on boronate affinity chromatography. Structural studies using, HPLC, mass spectrometry, and the genomic DNA analysis revealed a new substitution in which the cysteine residue at position β93 was replaced by serine. The variant was named Hb Riesa or β93 (F9) Cys→Ser and accounted for 54.3% of the total haemoglobin. This suggests that the protein-synthesis processes for the mutant could be slightly more promoted than those of the wild-type. Hb Riesa is clinically and electrophoretically silent.
authors.affiliation: Department of Clinical Chemistry, University Medical Center, Hugstetterstrasse 55, D-79106 Freiburg, Germany. emmanuel.bisse@uniklinik-freiburg.de
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Bissé
authors.forename: Agnès
authors.initials: A
authors.lastname: Hovasse
authors.forename: Sabine
authors.initials: S
authors.lastname: Preisler-Adams
authors.forename: Thomas
authors.initials: T
authors.lastname: Epting
authors.forename: Oswald
authors.initials: O
authors.lastname: Wagner
authors.forename: Gabriele
authors.initials: G
authors.lastname: Kögel
authors.forename: Alain
authors.initials: A
authors.lastname: Van Dorsselaer
authors.forename: Christine
authors.initials: C
authors.lastname: Schaeffer-Reiss
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D003545:Cysteine / Q000235:genetics / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000097:blood* / Q000235:genetics; D014644:Genetic Variation; D006442:Glycated Hemoglobin / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D012694:Serine / Q000235:genetics / Q000378:metabolism; D021241:Spectrometry, Mass, Electrospray Ionization; D055544:beta-Globins / Q000235:genetics / Q000378:metabolism
chemical_list: D003545:Cysteine; D006442:Glycated Hemoglobin; D012694:Serine; D055544:beta-Globins