Hb J-Cape Town	alpha92(FG4)Arg->Gln

CONTACT		alpha1beta2 contact
HEMATOLOGY		Mild erythrocytosis and microcytosis in the heterozygote
ELECTROPHORESIS		Hb A moves to the position of Hb J at alkaline pH
CHROMATOGRAPHY		Hb X and Hb A separate by cation and anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; reversed phase HPLC; amino acid analysis
DNA ANALYSES		A CGG->CAG mutation at codon 92 of the alpha2alpha1 hybrid gene that remains on a chromosome with the 3.7 kb deletion (Ref. 7)
FUNCTIONAL STUDIES		Increased oxygen affinity; normal Bohr effect; decreased cooperativity
STABILITY		Normal
OCCURRENCE		Found in several, partially native, families living in South Africa
OTHER INFORMATION		Quantity in heterozygotes ~23% (Ref. 7); also found in combination with Hb E, and in a homozygote

REFERENCES
1.		Botha, M.C., Beale, D., Isaacs, W.A., and Lehmann, H.: Nature, 212:792, 1966.
2.		Lines, J.G. and McIntosh, R.: Nature, 215:297, 1967.
3.		Ogawa, S., Shulman, R.G., Kynoch, P.A.M., and Lehmann, H.: Nature, 225:1042, 1970.
4.		Charache, S. and Jenkins, T.: J. Clin. Invest., 50:1554, 1971.
5.		Nagel, R.L., Gibson, Q.H., and Jenkins, T.: J. Mol. Biol., 58:171.
6.		Botha, M.C., Stathopoulou, R., Lehmann, H., Rees, J.S., and Plowman, D.: FEBS Lett., 96:331, 1978.
7.		Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.

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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.