Hb Coimbra beta99(G1)Asp->Glu
CONTACT Internal; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.52-0.62 l/l)
ELECTROPHORESIS No separation obtained by standard techniques or by IEF
CHROMATOGRAPHY Hb X was detected because the betaX chain eluted ahead of betaX in a reversed phase chromatogram
STRUCTURE STUDIES Tryptic digestion of AE-betaX+betaA chains; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAT->GAA or GAG at codon 99
FUNCTION STUDIES Increased oxygen affinity
OCCURRENCE Found in a 60-year-old Portuguese male and his son, and in several members of a large German family
OTHER INFORMATION Quantity in the heterozygote 48%
1. Tamagnini, G.P., Ribeiro, M.L., Valente, V., Ramachandran, M., Wilson, J.B., Baysal, E., Gu, L-H., and Huisman, T.H.J.: Hemoglobin, 15:487, 1991.
2. Wajcman, H., Kister, J., Vasseur, C., Blouquit, Y., Behnken, J.L., and Galacteros, F.: Blood, 78:206a (Suppl. 1), 1991.

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.