A NEW SILENT β CHAIN VARIANT: Hb HOUNSLOW [β 80(EF4)Asn→Tyr]
Préhu C1,2, Riou J2, Henthorn J3, Wajcman H1,2*
*Corresponding Author: Dr. Henri Wajcman, INSERM U841 eq 11, Hôpital Henri Mondor, 94010 Créteil, France; Tel.: +33(0)1-49-81-35-78; Fax: +31(0)148-99-33-45; E-mail: Henri.Wajcman@im3.inserm.fr
page: 29

Abstract

We report a new neutral hemoglobin (Hb) variant, found, during neonatal screening, in a child originating from Afghanistan. This variant was revealed by cation exchange and reversed phase high performance liquid chromatography (HPLC), but was silent in electrophoretic methods except for globin chain electrophoresis in the presence of urea and Triton X-100. The structural modification was determined by protein structure studies and the substitution established by tandem mass spectrometry (MS/MS). The mutation, located near to the 2,3-diphosphoglycerate (2,3-DPG) binding site, was without any hematological consequences. The pitfalls presented by the presence of neutral Hb variants as modulator factors of the main hemoglobinopathies is discussed.

Key words: Hemoglobin (Hb) variant; Hemoglobinopathies; Modulator factors




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