Hb Pasadena beta75(E19)Leu->Arg
         
CONTACT Internal
HEMATOLOGY Compensated hemolytic anemia in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves between Hb S and Hb F; no separation at acidic pH
CHROMATOGRAPHY Hb X was isolated by DEAE-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CTG->CGG at codon 75
FUNCTION STUDIES Decreased oxygen affinity and cooperativity
STABILITY Unstable
OCCURRENCE Found in a 27-year-old male of Southern French ancestry but not in his parents
OTHER INFORMATION Quantity in the heterozygote 31-32%
       
REFERENCES
1. Johnson, C.S., Moyes, D., Schroeder, W.A., Shelton, J.B., Shelton, J.R., and Beutler, E.: Biochim. Biophys. Acta, 623:360, 1980.


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.