Hb Cowtown	beta146(HC3)His->Leu

CONTACT		External; alpha1beta1 contact
HEMATOLOGY		Erythrocytosis in the heterozygote (PCV 0.51-0.54 l/l)
ELECTROPHORESIS		No separation of Hb X and Hb A by standard procedures
CHROMATOGRAPHY		Hb X was isolated by Bio-Rex 70 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->CTC at codon 146
FUNCTION STUDIES		Increased oxygen affinity; decreased Bohr effect; normal cooperativity
STABILITY		Normal
OCCURRENCE		Found in a Caucasian father and son
OTHER INFORMATION		Quantity in the heterozygote 40-45%

REFERENCES
1.		Schneider, R.G., Bremner, J.E., Brimhall, B., Jones, R.T., and Shih, T-B.: Am. J. Clin. Pathol., 72:1028, 1979.
2.		Perutz, M.F., Fermi, G., and Shih, T-B.: Proc. Natl. Acad. Sci. USA, 81:4781, 1984.

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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.