Hb Riesa or β93 (F9) Cys → Ser, a new electrophoretically silent haemoglobin variant interfering with haemoglobin A1c measurement

被引：5

作者：

Bisse, Emmanuel ^{[1
]}

Hovasse, Agnes ^{[2
]}

Preisler-Adams, Sabine ^{[3
]}

Epting, Thomas ^{[1
]}

Wagner, Oswald ^{[1
]}

Koegel, Gabriele ^{[1
]}

Van Dorsselaer, Alain ^{[2
]}

Schaeffer-Reiss, Christine ^{[2
]}

机构：

[1] Univ Med Ctr, Dept Clin Chem, D-79106 Freiburg, Germany

[2] Univ Strasbourg, Lab Spectrometrie Masse Bioorgan, IPHC, CNRS, F-67087 Strasbourg, France

[3] Univ Munster, Inst Humangenet, D-48149 Munster, Germany

来源：

JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES | 2011年 / 879卷 / 28期

关键词：

Fib variant; Hb A(1c); Diabetes; HPLC; TOF-ESI-MS; LC-MS/MS; THALASSEMIA; AFFINITY;

D O I：

10.1016/j.jchromb.2011.08.016

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

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 1393 was replaced by serine. The variant was named Hb Riesa or beta 93 (F9) Cys -> Set 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. (C) 2011 Published by Elsevier B.V.

引用

页码：2952 / 2956

页数：5

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