Hb Cochin-Port Royal	beta146(HC3)His->Arg

CONTACT		External; alpha2beta1 contact
HEMATOLOGY		Normal in the heterozygote (PCV 0.43 l/l)
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves between Hb A and Hb S; excellent separation by IEF
CHROMATOGRAPHY		Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis; carboxypeptidases A and B
DNA ANALYSES		Not reported; presumed mutation CAC->CGC at codon 146
FUNCTION STUDIES		Normal oxygen affinity; reduced Bohr effect
STABILITY		Normal
OCCURRENCE		Found in two siblings in a French family
OTHER INFORMATION		Quantity in the heterozygote 48%

REFERENCES
1.		Wajcman, H., Kilmartin, J.V., Najman, A., and Labie, D.: Biochim. Biophys. Acta, 400:354, 1975.
2.		Russu, I.M. and Ho, C.: Biochemistry, 25:1706, 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.