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Hb Riesa or ß93 (F9) Cys→Ser, a new electrophoretically silent haemoglobin variant interfering with haemoglobin A1c measurement.
Bissé, Emmanuel; Hovasse, Agnès; Preisler-Adams, Sabine; Epting, Thomas; Wagner, Oswald; Kögel, Gabriele; Van Dorsselaer, Alain; Schaeffer-Reiss, Christine.
Afiliação
  • Bissé E; Department of Clinical Chemistry, University Medical Center, Hugstetterstrasse 55, D-79106 Freiburg, Germany. emmanuel.bisse@uniklinik-freiburg.de
J Chromatogr B Analyt Technol Biomed Life Sci ; 879(28): 2952-6, 2011 Oct 15.
Article em En | MEDLINE | ID: mdl-21937289
ABSTRACT
A new ß 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 ß93 was replaced by serine. The variant was named Hb Riesa or ß93 (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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Hemoglobinas Glicadas / Mutação de Sentido Incorreto / Diabetes Mellitus Tipo 1 Limite: Humans / Male / Middle aged Idioma: En Revista: J Chromatogr B Analyt Technol Biomed Life Sci Ano de publicação: 2011 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Hemoglobinas Glicadas / Mutação de Sentido Incorreto / Diabetes Mellitus Tipo 1 Limite: Humans / Male / Middle aged Idioma: En Revista: J Chromatogr B Analyt Technol Biomed Life Sci Ano de publicação: 2011 Tipo de documento: Article