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%

REFERENCES
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.

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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.