Hb Riesa or beta93 (F9) Cys-->Ser, a new electrophoretically silent haemoglobin variant interfering with haemoglobin A1c measurement.
Fiche publication
Date publication
octobre 2011
Auteurs
Membres identifiés du Cancéropôle Est :
Dr VAN DORSSELAER Alain
Tous les auteurs :
Bisse E, Hovasse A, Preisler-Adams S, Epting T, Wagner O, Kogel G, Van Dorsselaer A, Schaeffer-Reiss C
Lien Pubmed
Résumé
A new beta 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 beta93 was replaced by serine. The variant was named Hb Riesa or beta93 (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.
Référence
J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Oct 15;879(28):2952-6