Hb Camperdown beta104(G6)Arg->Ser
CONTACT Central cavity
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; excellent separation by IEF; at acidic pH Hb X moves between Hb A and Hb F, close to Hb F
CHROMATOGRAPHY Hb X and Hb A separate by DEAE-Sephadex chromatography; the betaX and betaA chains separate by reversed phase HPLC; betaX elutes between betaA and alpha
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing; S. aureus V8 protease treatment; reversed phase HPLC; mass spectrometry
DNA ANALYSES Not reported; presumed mutation AGG->AGC or AGT at codon 104
FUNCTION STUDIES Normal; decreased Bohr effect
STABILITY Slightly unstable
OCCURRENCE Found in members of a Maltese family living in Australia
OTHER INFORMATION Quantity in the heterozygote ~50%
1. Wilkinson, T., Chua, C.G., Carrell, R.W., Robin, H., Exner, T., Lee, K.M., and Kronenberg, H.: Biochim. Biophys. Acta, 393:195, 1975.
2. Kister, J., Barbadjian, J., Blouquit, Y. Bohn, B., Galacteros, F., and Poyart, C.: Hemoglobin, 13:567, 1989.
3. Jensen, O.N. and Roepstorff, P.: Hemoglobin, 15:497, 1991.

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.