Hb Strasbourg beta23(B5)Val->Asp
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate completely by IEF; Hb X focuses ahead of Hb A
CHROMATOGRAPHY Hb X and Hb A could not be separated by routine chromatographic methods
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis; sequencing by Edman degradation and Dansylation
DNA ANALYSES Not reported; presumed mutation GTT->GAT at codon 23
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect; decreased cooperativity
STABILITY Normal
OCCURRENCE Found in a Portuguese female from Northern Portugal
OTHER INFORMATION Quantity in the heterozygote ~40%
       
REFERENCES
1. Garel, M.C., Blouquit, Y., Arous, N., and Rosa, J.: FEBS Lett., 72:1, 1976.
2. Forget, B.G., Hemoglobin, 1:879, 1977.
3. Cohen-Solal, M., North, M.L., Thillet, J., Albrecht-Ellmer, K., Garel, M.C., Blouquit, Y., and Rosa, J.: FEBS Lett., 90:286, 1978.


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.