Hb Freiburg beta23(B5)Val->0
         
HEMATOLOGY Mild hemolytic anemia with cyanosis in the heterozygote
ELECTROPHORESIS Hb X moves in the position of Hb F in starch gel electrophoresis at alkaline pH
CHROMATOGRAPHY Hb X and Hb A separate in both cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES Not done
FUNCTION STUDIES Increased oxygen affinity; metHb with specific spectrum
STABILITY Unstable
OCCURRENCE Found in members of a German family
OTHER INFORMATION Quantity in heterozygotes 27-32%
       
REFERENCES
1. Betke, K. and Kleihauer, E.: Schweiz. Med. Wschr., 42:1316, 1962.
2. Jones, R.T., Brimhall, B., Huisman, T.H.J., Kleihauer, E., and Betke, K.: Science, 154:1024, 1966.


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.