Hb Sydney beta67(E11)Val->Ala
         
CONTACT Heme contact
HEMATOLOGY Inclusion body hemolytic anemia in the heterozygote
ELECTROPHORESIS Hb X moves as a broad band behind Hb A at alkaline pH
CHROMATOGRAPHY Not studied
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GCG at codon 67
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in a German and an English family
OTHER INFORMATION Quantity in the heterozygote 40%; an additional structural change observed at beta141 leucine->hydroxyleucine (see also Hb Manukau; Hb Atlanta)
       
REFERENCES
1. Carrell, R.W., Lehmann, H., Lorkin, P.A., Raik, E., and Hunter, E.: Nature, 215: 626, 1967.
2. Casey, R., Lang, A., Lehmann, H., and Shinton, N.K.: Br. J. Haematol., 33:143, 1976.


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.