Hb Hiroshima beta146(HC3)His->Asp
NOTE: This variant was originally identified as having the His->Asp replacement at beta143; a correction was made in 1971 (Ref. 5).
CONTACT External; alpha2beta1 contact
HEMATOLOGY Mild erythrocytosis in the heterozygote (PCV 0.38-0.55 l/l)
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline and acidic pH; Hb X moves faster than Hb A in both systems
CHROMATOGRAPHY Hb X was isolated on CM-cellulose and Amberlite IRC-50 columns
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by fingerprinting; amino acid analysis; carboxypeptidase A and B
DNA ANALYSES Not reported; presumed mutation CAC->GAC at codon 146
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect and cooperativity
STABILITY Not reported
OCCURRENCE Found in eight members of a Japanese family
OTHER INFORMATION Quantity in the heterozygote 50%
1. Imai, K.: Arch. Biochem. Biophys., 127:543, 1968.
2. Mihara, K., Hayashi, N., Kikuchi, G., and Shibata, S.: Biochem. Biophys. Res. Commun., 32:763, 1968.
3. Hamilton, H.B., Iuchi, I., Miyaji, T., and Shibata, S.: J. Clin. Invest., 48:525, 1969.
4. Nagel, R.L., Gibson, Q.H., and Hamilton, H.B.: J. Clin. Invest., 50:1772, 1971.
5. Perutz, M.F., del Pulsinelli, P., Ten Eyck, L., Kilmartin, J.V., Shibata, S., Iuchi, I., Miyaji, T., and Hamilton, H.B., Nature, 232:147, 1971.

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.