Hb Leiden beta6(A3) or beta7(A4) Glu->0
HEMATOLOGY Mild hemolytic anemia; more severe when drug induced or by viral infection; reticulocytosis
ELECTROPHORESIS Hb X moves in the position of Hb S at alkaline pH; no separation from Hb A at acidic pH
CHROMATOGRAPHY Hb X elutes between Hb A2 and Hb A from an anion exchange column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography; HPLC; amino acid analysis
DNA ANALYSES Not reported
FUNCTION STUDIES Slightly increased oxygen affinity; normal Bohr effect and cooperativity; decreased response to 2,3-DPG and IHP
OCCURRENCE Found in a few families from The Netherlands, China, USA, South Africa, Mexico, Yugoslavia
OTHER INFORMATION Quantity in heterozygotes 19-31%; found in combination with betao-thal, causing severe hemolytic anemia
1. De Jong, W.W.W., Went, L.N., and Bernini, L.F.: Nature, 220:788, 1968.
2. Nagel, R.L., Rieder, R.F., Bookchin, R.M., and James, G.W.: Biochem. Biophys. Res. Commun., 53:1240, 1973.
4. Rieder, R.F. and James, G.W., III: J. Clin. Invest., 54:948, 1974.
3. Lie-Injo, L.E., Ganesan, J., Randhawa, Z.I., Peterson, D., and Kane, J.P.: Am. J. Hema-tol., 2:335, 1977.
4. Rieder, R.F. and James, G.W.: Blood, 47:489, 1976.
5. Zeng, Y-T., Huang, S-Z., Zhou, X-D., Chen, R-J., Yi, S-C., and Wang, C-J.; Chinese Med. J., 60:581, 1980.
6. Perlman, M.M., Wiltshire, B.G., Stevens, K., Cassel, R., and Lehmann, H.: S.A. Med. J., 59:537, 1981.
7. Juricic, D., Ruzdic, I., Beer, Z., Efremov, G.D., Casey, R., and Lehmann, H.: Hemoglobin, 7:271, 1983.

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.