Hb Olympia	beta20(B2)Val->Met

CONTACT		External
HEMATOLOGY		Erythrocytosis in the heterozygote
ELECTROPHORESIS		No separation obtained
CHROMATOGRAPHY		No separation obtained
STRUCTURE STUDIES		Tryptic digestion of the betaA and betaX chain; fingerprinting; reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		A GTG->ATG mutation at codon 20 (unpublished data)
FUNCTION STUDIES		Increased oxygen affinity; cooperativity, 2,3-DPG, and Bohr effects appear normal
STABILITY		Slightly unstable
OCCURRENCE		Found in a few Caucasian families
OTHER INFORMATION		None

REFERENCES
1.		Stamatoyannopoulos, G., Nute, P.E., Adamson, J.W., Bellingham, A.J., and Funk, D.: J. Clin. Invest., 52:342, 1973.
2.		Nakatsuji, T., Wilson, J.B., Lam, H., and Huisman, T.H.J.: J. Chromatogr., 259: 511, 1983.
3.		Berlin, G. and Wranne, B.: Hemoglobin, 13:493, 1989.

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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.