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ATG mutation at codon 20 (unpublished data)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
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.

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.