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

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.