Hb Barcelona beta94(FG1)Asp->His
         
CONTACT External
HEMATOLOGY Mild erythrocytosis in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves slower than Hb A; excellent separation by IEF
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by cation exchange chromatography and reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAC->CAC at codon 94
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect and cooperativity
STABILITY Not reported
OCCURRENCE Found in a Spanish family
OTHER INFORMATION Quantity in the heterozygote 37%
       
REFERENCES
1. Wajcman, H., Aguilar, I., Bascompte, J.L., Labie, D., Poyart, C., and Bohn, B.: J. Mol. Biol., 156:185, 1982.
2. Phillips, S.E.V., Perutz, M.F., Poyart, C., and Wajcman, H.: J. Mol. Biol., 164:477, 1983.


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.