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
收藏
页码:2952 / 2956
页数:5
相关论文
共 14 条
[1]  
[Anonymous], HBVAR DAT HUM HAEM V
[2]  
[Anonymous], METHODS HEMATOLOGY
[3]   HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHIC SEPARATION OF HUMAN HEMOGLOBINS - SIMULTANEOUS QUANTITATION OF FETAL AND GLYCATED HEMOGLOBINS [J].
BISSE, E ;
WIELAND, H .
JOURNAL OF CHROMATOGRAPHY-BIOMEDICAL APPLICATIONS, 1988, 434 (01) :95-110
[4]   COUPLING OF M-AMINOPHENYLBORONIC ACID TO S-TRIAZINE-ACTIVATED SEPHACRYL - USE IN THE AFFINITY-CHROMATOGRAPHY OF GLYCATED HEMOGLOBINS [J].
BISSE, E ;
WIELAND, H .
JOURNAL OF CHROMATOGRAPHY-BIOMEDICAL APPLICATIONS, 1992, 575 (02) :223-228
[5]  
Bry L, 2001, CLIN CHEM, V47, P153
[6]   HB OKAZAKI [BETA-93(F8) CYS-]ARG], A NEW HEMOGLOBIN-VARIANT WITH INCREASED OXYGEN-AFFINITY AND INSTABILITY [J].
HARANO, K ;
HARANO, T ;
SHIBATA, S ;
UEDA, S ;
MORI, H ;
SEKI, M .
FEBS LETTERS, 1984, 173 (01) :45-47
[7]   Four new β chain hemoglobin variants without clinical or hematological effects:: Hb San Bruno [β39(C5)Gln→His;: Hb Fort Dodge [β93(F9)Cys→Tyr;: Hb Rhode Island [β116(G18)His→Tyr];: And Hb Inglewood [β142(H20)Ala→Thr] [J].
Hoyer, JD ;
McCormick, DJ ;
Snow, K ;
Kubik, KS ;
Holmes, MW ;
Dawson, DB ;
Shaber, R ;
Marner, M ;
Hosmer, J ;
Shinno, N ;
Fairbanks, VF .
HEMOGLOBIN, 2002, 26 (03) :299-303
[8]   MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA IN EGYPTIANS [J].
HUSSEIN, IR ;
TEMTAMY, SA ;
ELBESHLAWY, A ;
FEARON, C ;
SHALABY, Z ;
VASSILOPOULOS, G ;
KAZAZIAN, HH .
HUMAN MUTATION, 1993, 2 (01) :48-52
[9]  
KAZAZIAN HH, 1992, BLOOD, V79, P3014
[10]  
Little Randie R, 2009, J Diabetes Sci Technol, V3, P446