Hb Bicêtre	beta63(E7)His->Pro

CONTACT		External; surface crevice; "distal histidine"
HEMATOLOGY		Severe hemolytic anemia with Heinz bodies
ELECTROPHORESIS		No separation of Hb X and Hb A at alkaline pH; detection of the variant based on stability
CHROMATOGRAPHY		No separation by cation or anion exchange chromatography; the betaX and betaA chains separate by reversed phase HPLC
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography or reversed phase HPLC; amino acid analysis; sequence by sequenator
DNA ANALYSES		Not reported; presumed mutation CAT->CCT at codon 63
FUNCTION STUDIES		Normal
STABILITY		Unstable; auto-oxidizing
OCCURRENCE		Found in a French male and an American male; not found in either parents or siblings
OTHER INFORMATION		Quantity in the heterozygotes 20-25%

REFERENCES
1.		Wajcman, H., Krishnamoorthy, R., Gacon, G., Elion, J., Allard, C., and Labie, D.: J. Mol. Med., 1:187, 1976.
2.		Miller, D.R., Wilson, J.B., Kutlar, A., and Huisman, T.H.J.: Am. J. Hematol., 21: 209, 1986.

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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.