Hb York	beta146(HC3)His->Pro

CONTACT		External; alpha2beta1 contact
HEMATOLOGY		Erythrocytosis in the heterozygote
ELECTROPHORESIS		No separation of Hb X and Hb A at alkaline pH; Hb X moves more rapidly to the cathode than Hb A at acidic pH
CHROMATOGRAPHY		Hb X was isolated on a CM-cellulose column
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis; thermolysin, carboxypeptidase A
DNA ANALYSES		Not reported; presumed mutation CAC->CCC at codon 146
FUNCTION STUDIES		Increased oxygen affinity; decreased Bohr effect, and cooperativity
STABILITY		Stable
OCCURRENCE		Found in a 22-year-old Caucasian female
OTHER INFORMATION		Quantity in the heterozygote 50%

REFERENCES
1.		Bare, G.H., Bromberg, P.A., Alben, J.O., Brimhall, B., Jones, R.T., Mintz, S., and Rother, I.: Nature, 259:155, 1976.
2.		Kosugi, H., Weinstein, A.S., Kikugawa, K., and Asakura, T.: Hemoglobin, 7:205, 1983.
3.		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.