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.

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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.