Hb G-San José	beta7(A4)Glu->Gly

CONTACT		External
HEMATOLOGY		Normal in heterozygotes and homozygotes
ELECTROPHORESIS		Hb X moves between Hb S and Hb F on starch gel and cellulose acetate at alkaline pH; Hb X moves between Hb C and Hb S on citrate agar at acid pH
CHROMATOGRAPHY		Hb X and Hb A can be separated by cation as well as anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion; fingerprinting; reversed phase HPLC; amino acid analysis; sequence analysis
DNA ANALYSES		Not reported; presumed mutation GAG->GGG at codon 7
FUNCTION STUDIES		Normal oxygen affinity, Bohr effect, and cooperativity
STABILITY		Slightly unstable
OCCURRENCE		Mainly in Italian families; found in combination with Hb S and beta-thal; the homozygote came from Calabria (Ref. 6)
OTHER INFORMATION		Quantity in heterozygotes 30-40%

REFERENCES
1.		Schwartz, H.C., Spaet, T.H., Zuelzer, W.W., Neel, J.V., Robinson, A.R., and Kaufman, S.F.: Blood, 12:238, 1957.
2.		Hill, R.L., Swenson, R.T., and Schwartz, H.C.: J. Biol. Chem., 235:3182, 1960.
3,		Hill, R.L., Swenson, R.T., and Schwartz, H.C., Blood, 19:573, 1962.
4.		Musumeci, S., Schiliro, G., Pizzarelli, G., Tentori, L., Marinucci, M., Fontanarosa, P.P., and Russo, G.: Hum. Genet., 52:239, 1979.
5.		Wilson, J.B., Lam, H., Williams, D., Huisman, T.H.J., Espinosa-Turcott, J., and Ruiz-Reyes, G.: Hemoglobin, 4:95, 1980.
6.		Brancati, C., Caracciolo, M., Bria, M., Bisconte, M.G., and Qualtieri, A.: Hemoglobin, 13:497, 1989.

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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.