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
OCCURRENCE Found in a Caucasian father and son
OTHER INFORMATION Quantity in the heterozygote 40-45%
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.

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.