Hb Presbyterian beta108(G10)Asn->Lys
CONTACT Central cavity; alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated by standard procedures; Hb X moves between Hb A and Hb F at alkaline pH and moves to the position of Hb C at acidic pH
CHROMATOGRAPHY Hb X and Hb A can be separated by DEAE-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAC->AAA or AAG at codon 108
FUNCTION STUDIES Decreased oxygen affinity
OCCURRENCE Found in members of a family in the USA; in a German family, and a Spanish family
OTHER INFORMATION Quantity in the heterozygote 40%
1. Moo-Penn, W.F., Wolff, J.A., Simon, G., Vacek, M., Jue, D.L., and Johnson, M.H.: FEBS Lett., 92:53, 1978.
2. Kohne, E., Behnken, L.J., Leupold, D., Rogge, H., Martin, H., and Kleihauer, E.: Hemoglobin, 3:365, 1979.
3. Horst, J., Oehme, R., Kleihauer, E., and Kohne, E.: Hum. Genet., 64:263, 1983.
4. Villegas, A., Wilson, J.B., Chen, S.S., Calero, F., Reinares, L., Huisman, T.H.J., and Espinos, D.: Acta Haematol., 76:161, 1986.

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.