Hb Saverne beta143 (-A); abnormal C-terminal sequence:
Asn-Phe-(156)Tyr-COOH (most likely sequence)
HEMATOLOGY Heinz body hemolytic anemia in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A in IEF
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed frameshift at codon beta143 (-A)
FUNCTION STUDIES High oxygen affinity with low cooperativity
OCCURRENCE Found in a French female
OTHER INFORMATION Quantity in the heterozygote 35%
1. Delanoe-Garin, J., Blouquit, Y., Arous, N., Kister, J., Poyart, C., North, M.L., Bardakdjian, J., Lacombe, C., Rosa, J., and Galacteros, F.: Hemoglobin, 12:337, 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.