Hb Rainier beta145(HC2)Tyr->Cys
CONTACT Internal; alpha2beta1 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.45-0.52 l/l)
ELECTROPHORESIS No separation observed
CHROMATOGRAPHY Excellent separation of Hb X and Hb A on a CM-Sephadex column
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation TAT->TGT at codon 145
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr effect
OCCURRENCE Found in several members of two Caucasian families, and in members of a Canadian family of Greek descent
OTHER INFORMATION Quantity in the heterozygote 37-44%; increased resistance to alkali denaturation
1. Stamatoyannopoulos, G., Yoshida, A., Adamson, J., and Heinenberg, S.: Science, 159: 741, 1968.
2. Adamson, J.W., Parer, J.T., and Stamatoyannopoulos, G.: J. Clin. Invest., 48:1376, 1969.
3. Nagai, M., Sugita, Y., and Yoneyama, Y.: J. Biol. Chem., 247:285, 1972.
4. Greer, J. and Perutz, M.F.: Nature, 230:261, 1971.
5. Dingle, B., Farquharson, H., Williams, D., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 3:209, 1979.

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.