Hb HARLEQUIN [b76(E20)Ala->Val]: A NEUTRAL VARIANT FOUND DURING DIABETIC MONITORING
Wajcman H1,*, Riou J1, Henthorn J2, Promé D3, Richelme-David S3, Galactéros F1
*Corresponding Author: DrDr. Henri Wajcman, INSERM U468, Génétique Moléculaire et Physiopathologie, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, 94010 Créteil Cédex, France; Tel: +33 149813578; Fax: +33 148993345; E-mail: wajcman@im3.inserm.fr
page: 7

INTRODUCTION

The number of hemoglobin (Hb) variants, found by ion exchange high performance liquid chromatography (HPLC) performed for monitoring diabetes mellitus, is regularly increasing [1]. These variants may or may not have electrophoretic properties differing from those of Hb A. Also, their mutated globin chain may or may not be separated from the normal one by reversed phase HPLC [2]. Most of these Hbs are clinically silent but there may be a problem when measuring the percentage of glycated Hb; in addition, some Hbs may potentially interact with other red cell abnormalities.

       Therefore, these variants must be reported since they may well be found in regions where hemoglobinopathies are frequent. We report here a new neutral variant, Hb Harlequin, found in an English woman. It was well separated from Hb A by ion exchange HPLC but totally silent in all the other electrophoretic and chromatographic tests used in our laboratory.

 

__________________________________________

1      INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, 94010 Creteil, France

2      Department of Haematology, Central Middlesex Hospital, London, Middlesex, UK

3      Institut de Chimie Moléculaire Paul Sabatier, FR 1744, 31062 Toulouse Cedex 4, France

 




Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006