Hb Etobicoke alpha84(F5)Ser->Arg
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb S (starch gel) at alkaline pH but not at acidic pH (agar gel)
CHROMATOGRAPHY Hb X and Hb A separate by cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AGC->AGG or CGC or AGA; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity
STABILITY Unstable
OCCURRENCE Found in a Canadian family of Northern Irish ancestry and in a newborn male of French-Cherokee Indian-English descent
OTHER INFORMATION Quantity in the heterozygote 15-20%
       
REFERENCES
1. Crookston, J.H., Farquharson, H.A., Beale, D., and Lehmann, H.: Can. J. Biochem., 47: 143, 1969.
2. Headlee, M.G., Nakatsuji, T., Lam, H., Wrightstone, R.N., and Huisman, T.H.J.: Hemoglobin, 7:285, 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.