Hb Belliard alpha56(E5)Lys->Asn
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Cellulose acetate (alkaline pH) shows an abnormal band that migrated towards the anode
CHROMATOGRAPHY Hb A and Hb X can be separated by anion exchange HPLC
STRUCTURE STUDIES The variant was identified by separating the tryptic peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->AAT or AAC; alpha2 or alpha1
FUNCTIONAL STUDIES Normal oxygen affinity
STABILITY Not reported
OCCURRENCE Found in a family from Spain
OTHER INFORMATION Quantity in heterozygotes about 25%
       
REFERENCES
1. Wajcman, H., Gombaud-Saintonge, G., Galacteros, F., Martha, M., and Vertongen, F.: Hemoglobin, 13:157, 1989.


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.