Hb CHAMPAGNE [β113(G15)Val->Leu]:
A NEW NEUTRAL VARIANT
Wajcman H1, Riou J1, Promé D2, Richelme-David S2, Galactéros F1
*Corresponding Author: Dr. Henri Wajcman, INSERM U 468, Génétique Moléculaire et Physiopathologie, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, 94010 Créteil, France; Tel: +33-1-49-81-35-78; Fax: +33-1-48-99-33-45; E-mail: Henri.Wajcman@im3.inserm.fr
page: 23
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Abstract
Hb Champagne [b113(G15)Val®Leu] has been characterized by protein chemistry methods in a Caucasian French man presenting with a mild anemia. This mutation changes an internal valine, located in the a1b1 interface, into a leucine, that is a bulkier and more hydrophobic residue.
Key words: b-globin, Caucasian-French, hemoglobin variant, human hemoglobin.
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