Hb Mozhaisk	beta92(F8)His->Arg

CONTACT		Heme contact; proximal histidine
HEMATOLOGY		Moderately severe hemolytic anemia and reticulocytosis in the heterozygote; Heinz bodies
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves slower than Hb A; excellent separation by IEF
CHROMATOGRAPHY		No separations reported except by DEAE-cellulose chromatography
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CAC->CGC at codon 92
FUNCTION STUDIES		Slightly increased oxygen affinity; no cooperativity; increased 2,3-DPG content
STABILITY		Unstable
OCCURRENCE		Found in a 9-year-old Russian male and in a young South African male of mixed ethnic origin, and in his brother and father
OTHER INFORMATION		Quantity in the heterozygote 25-30% based on stability

REFERENCES
1.		Spivak, V.A., Molchanova, T.P., Postnikov, Yu.V., Aseeva, E.A., Lutsenko, I.N., and Tokarev, Yu.N.: Hemoglobin, 6:169, 1982.
2.		Bird, A.R., Elliott, T., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 13:193, 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.