Hb Sunnybrook beta36(C2)Pro->Arg
         
CONTACT alpha1beta2 contact
HEMATOLOGY Mild erythrocytosis in the heterozygote
ELECTROPHORESIS Hb X was easily separated from Hb A by alkaline electrophoresis with a mobility slightly faster than Hb S; did not separate from Hb A by agar gel electrophoresis
CHROMATOGRAPHY Hb X moves like Hb E in cation exchange HPLC; does not separate from Hb A2; Hb X elutes between Hb A2 and Hb A on DEAE-cellulose chromatography; the betaX chain separates from the betaA and alpha chains by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of the peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CCT->CGT at codon 36
FUNCTION STUDIES Increased oxygen affinity; slightly altered Bohr effect
STABILITY Not reported
OCCURRENCE Found in a male of European descent
OTHER INFORMATION Quantity in the heterozygote ~35%
       
REFERENCES
1. Ali, M.A.M., Pinkerton, P., Chow, S.W.S., Zaetz, S.D., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 12:137, 1988.


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.