Hb Bethesda beta145(HC2)Tyr->His
CONTACT Internal; alpha2beta1 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.60-0.69 l/l)
ELECTROPHORESIS No separation of Hb X and Hb A at alkaline pH; at acidic pH, Hb X moves between Hb A and Hb S, closer to Hb A
CHROMATOGRAPHY Hb X was isolated on a column of CM-cellulose in the cold
STRUCTURE STUDIES Tryptic digestion of betaX chain or total Hb; separation of peptides by fingerprinting; amino acid analysis; carboxypeptidase A
DNA ANALYSES Not reported; presumed mutation TAT->CAT at codon 145
FUNCTION STUDIES Increased oxygen affinity; no cooperativity; normal Bohr effect and 2,3-DPG level
OCCURRENCE Found in a 12-year-old Chinese family but not in the parents, and in six members of a Canadian family
OTHER INFORMATION Quantity in the heterozygote 45%
1. Bunn, H.F., Bradley, T.B., Davis, W.E., Drysdale, J.W., Burke, J.F., Beck, W.S., and Lauer, M.B.: J. Clin. Invest., 51:2299, 1972.
2. Adamson, J.W., Hayashi, A., Stamatoyannopoulos, G., and Burger, W.F.: J. Clin. Invest., 51:2883, 1972.
3. Olson, J.S. and Gibson, Q.H.: J. Biol. Chem., 247:3662, 1972.
4. Schmidt, R.M., Jue, D.L., Ali, M.A.M., Lyonnais, J., and Moo-Penn, W.F.: Am. J. Clin. Pathol., 66:449, 1976.

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.