Hb Brisbane	beta68(E12)Leu->His

ALSO KNOWN AS		Great Lakes
CONTACT		Internal
HEMATOLOGY		Mild erythrocytosis in the heterozygote
ELECTROPHORESIS		No separation of Hb X and Hb A by standard procedures; the abnormal Hb was detected by stability tests
CHROMATOGRAPHY		The betaX and betaA chains could be separated by CM-cellulose chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; chymotrypsin; Dansyl-Edman degradation
DNA ANALYSES		Not reported; presumed mutation CTC->CAC at codon 68
FUNCTION STUDIES		Increased oxygen affinity; decreased cooperativity; normal Bohr effect and 2,3-DPG binding
STABILITY		Decreased stability
OCCURRENCE		Found in a mother and son living in New Zealand and a 29-year-old Caucasian female in the USA
OTHER INFORMATION		None

REFERENCES
1.		Carrell, R.W.: Hemoglobin, 4:427, 1980.
2.		Brennan, S.O., Wells, R.M., Smith, H., and Carrell, R.W.: Hemoglobin, 5:325, 1981.
3.		Rahbar, S., Winkler, K., Louis, J., Rea, C., Blume, K., and Beutler, E.: Blood, 58: 813, 1981.
4.		Williamson, D., Brennan, S.O., and Carrell, R.W.: Hemoglobin, 7:473, 1983.

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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.