Hb Saint-Jacques beta140(H18)Ala->Thr
         
CONTACT Internal
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.56 l/l)
ELECTROPHORESIS No separation obtained
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of betaX and betaA chains; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCC->ACC at codon 140
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect
STABILITY Normal
OCCURRENCE Found in a 36-year-old Caucasian male living in France
OTHER INFORMATION None
       
REFERENCES
1. Rochette, J., Varet, B., Boissel, J.P., Clough, K., Labie, D., Wajcman, H., Bohn, B., Magne, P., and Poyart, C.: Biochim. Biophys. Acta, 785:14:1984.


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.