Hb Grange-Blanche beta27(B9)Ala->Val
         
CONTACT Internal
HEMATOLOGY Mild erythrocytosis in the heterozygote
ELECTROPHORESIS No separation at alkaline or acidic pH; separation by IEF is possible; Hb X migrates slightly more cathodic than Hb A
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of betaA+betaX chains; separation of peptides on reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GCC->GTC at codon 27
FUNCTION STUDIES Increased oxygen affinity
STABILITY Normal
OCCURRENCE Found in a Portuguese mother and daughter
OTHER INFORMATION Quantity in the heterozygote ~50% (IEF data)
       
REFERENCES
1. Baklouti, F., Giraud, Y., Francina, A., Richard, G., Périer, C., Geyssant, A., Jaubert, J., Brizard, C., and Delaunay, J.: FEBS Lett., 223:59, 1987.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.