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
OCCURRENCE Found in several members of two Caucasian families
OTHER INFORMATION Quantity in the heterozygote ~46%
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.

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.