Hb Puttelange	beta140(H18)Ala->Val

CONTACT		Internal
HEMATOLOGY		Erythrocytosis in the heterozygote (PCV 0.56 l/l)
ELECTROPHORESIS		No separation with routine methodology; Hb X moves slightly behind Hb A in IEF
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		The betaX and betaA chains were separated by reversed phase HPLC and digested with trypsin; the peptides were separated by reversed phase HPLC; amino acid analysis; mass spectrometry
DNA ANALYSES		Not reported; presumed mutation GCC->GTC at codon 140
FUNCTION STUDIES		Increased oxygen affinity; low cooperativity
STABILITY		Unstable
OCCURRENCE		Found in three members of a French family
OTHER INFORMATION		None

REFERENCES
1.		Wajcman, H., Promé, D., North, M.L., Duwig, I., Kister, J., Bergerat, J.P., Ober-ling, F., Groell, J.J., Lampert, E., Lonsdorfer, J., and Galacteros, F.: Abstract, Journees Scientifiques du Club de L'Hemoglobine, Strasbourg, France, June 1993.

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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.