Hb Collingwood beta60(E4)Val->Ala
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation of Hb X and Hb A observed at alkaline pH; no separation by IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GCG at codon 60
FUNCTION STUDIES Normal oxygen affinity
STABILITY Unstable
OCCURRENCE Found in Greek male
OTHER INFORMATION Quantity in the heterozygote 41%
       
REFERENCES
1. Williamson, D., Brennan, S.O., Muir, H., and Carrell, R.W.: Hemoglobin, 7:511, 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.