Hb Coimbra	beta99(G1)Asp->Glu

ALSO KNOWN AS		Ingelheim
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
STABILITY		Stable
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%

REFERENCES
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.

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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.