Balkan Journal of Medical Genetics

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

Abstract

Hb Harlequin [b76(E20)Ala®Val] is a new, clinically and electrophoretically silent variant, that was found in a Caucasian English woman during measurement of glycated hemoglobin (Hb). The only test revealing this variant was ion exchange high performance liquid chromatography. Structural studies using protein chemistry methods (high performance liquid chromatography and mass spectrometry) demonstrated that the alanine residue at position b76 was replaced by valine.

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