Hb Syracuse beta143(H21)His->Pro
CONTACT External; central cavity; 2,3-DPG binding site
HEMATOLOGY Erythrocytosis in the heterozygote
ELECTROPHORESIS No separation with standard procedures; good separation by IEF; Hb X moves slightly faster than Hb A
CHROMATOGRAPHY Hb X was isolated by CM-cellulose chromatography; Hb X elutes slightly ahead of Hb A
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CAC->CCC at codon 143
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect; no cooperativity
STABILITY Not reported
OCCURRENCE Found in six members in four generations of a Caucasian family, and in a 22-year-old Japanese female
OTHER INFORMATION Quantity in the heterozygote 40%
1. Jensen, M., Oski, F.A., Nathan, D.G., and Bunn, H.F.: J. Clin. Invest., 55:469, 1975.
2. Iuchi, I., Hidaka, K., Shimasaki, S., and Mizuta, W.: Kawasaki Med. J., 10:21, 1984.

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.