Hb Calais beta76(E20)Ala->Pro
         
CONTACT External
HEMATOLOGY Chronic anemia; patient also had severe Fe deficiencies
ELECTROPHORESIS No separation by standard procedures; separation by IEF (Hb X focuses between Hb A and Hb A1)
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digest of AE-beta chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCT->CCT at codon 76
FUNCTION STUDIES Decreased oxygen affinity; increased metHb formation
STABILITY Not reported
OCCURRENCE Found in a 43-year-old French woman from Calais, France
OTHER INFORMATION Quantity in the heterozygote ~40%
       
REFERENCES
1. Wajcman, H., Kister, J., Marden, M., Bohn, B., Blouquit, Y., Descamps, J., Goudemand, M., Poyart, C., and Galacteros, F.: Biochim. Biophys. Acta, 1096:60, 1991.


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.