Hb San Diego beta109(G11)Val->Met
CONTACT Internal
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.62 l/l)
ELECTROPHORESIS No separation of Hb X and Hb A
CHROMATOGRAPHY No separation of Hb X and Hb A
STRUCTURE STUDIES Tryptic digestion of AE-betaX (or betaX+betaA) chains; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES A GTG->ATG mutation at codon 109 (Ref. 5)
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect; decreased cooperativity
OCCURRENCE Found in a Filipino family living in the USA, in an Anglo-Saxon family in England, in a Japanese family, and in a West Indian family
OTHER INFORMATION Quantity in the heterozygotes not provided; occurred in combination with Hb S (Ref. 5)
1. Nute, P.E., Stamatoyannopoulos, G., Hermodson, M.A., and Roth, D.: J. Clin. Invest., 53:320, 1974.
2. Anderson, N.L.: J. Clin. Invest., 53:329, 1974.
3. Chanarin, I., Samson, D., Lang, A., Casey, R., Lorkin, P.A., and Lehmann, H.: Br. J. Haematol., 30:167, 1975.
4. Nakatsuji, T., Wilson, J.B., Lam, H., and Huisman, T.H.J.: J. Chromatogr., 259: 511, 1983.
5. Williamson, D., Perry, D.J., Brown, K., Langdown, J.V., and de Silva, C.: Hemoglobin, 19:27, 1995.

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.