Hb Val de Marne	alpha133(H16)Ser->Arg

ALSO KNOWN AS		Footscray
CONTACT		Internal
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X moves between Hb F and Hb A on IEF
CHROMATOGRAPHY		Hb X and Hb A can be separated by cation exchange HPLC
STRUCTURE STUDIES		The AE-alphaX chain was digested with trypsin; the peptides were separated by reversed phase HPLC; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation AGC->CGC; alpha2 or alpha1
FUNCTIONAL STUDIES		Oxygen affinity moderately increased
STABILITY		Stable
OCCURRENCE		Found in four members of a French family and in a Polish-Hungarian family
OTHER INFORMATION		Quantity in the heterozygote estimated at 16%; asymmetric hybrid formation

REFERENCES
1.		Wajcman, H., Kister, J., M'Rad, A., Marden, M.C., Riou, J., and Galacteros, F.: Hemoglobin, 17:407, 1993.
2.		Owen, M.C. and Hendy, J.G.: Hemoglobin, 18:19, 1994.

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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.