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
STABILITY		Normal
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%

REFERENCES
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.

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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.