Hb Brisbane beta68(E12)Leu->His
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
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.

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.