Hb McKees Rocks	beta145(HC2)Tyr->Term

CONTACT		Internal; alpha2beta1 contact
HEMATOLOGY		Erythrocytosis in the heterozygote (PCV 0.50-0.64 l/l)
ELECTROPHORESIS		No separation of Hb X and Hb A at alkaline pH; Hb X moves with Hb F at acidic pH; excellent separation by IEF
CHROMATOGRAPHY		Hb X can be isolated on a CM-Sephadex column
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by fingerprinting; amino acid analysis; carboxypeptidase A
DNA ANALYSES		Not reported; presumed mutation TAT->TAA at codon 145
FUNCTION STUDIES		Increased oxygen affinity; decreased Bohr effect; no cooperativity; unaffected by 2,3-DPG
STABILITY		Normal
OCCURRENCE		Found in several members of two Caucasian families
OTHER INFORMATION		Quantity in the heterozygote ~46%

REFERENCES
1.		Winslow, R.M., Swenberg, M-L., Gross, E., Chervenick, P.A., Buchman, R.R., and Anderson, W.F.: J. Clin. Invest., 57:772, 1976.
2.		Viggiano, G., Wiechelman, K.J., Chervenick, P.A., and Ho, C.: Biochemistry, 17:795, 1978.
3.		Rahbar, S., Rea, C., Blume, K., Seltzer, D., and Feiner, R.: Hemoglobin, 7:97, 1983.

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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.