Hb Kansas	beta102(G4)Asn->Thr

CONTACT		Internal; heme and alpha1beta2 contacts
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A can be separated at alkaline pH; Hb X migrates slightly slower than Hb A (pH 8.4)
CHROMATOGRAPHY		Hb X and Hb A can be separated by CM-cellulose chromatography; Hb X elutes after Hb A
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation AAC->ACC at codon 102
FUNCTION STUDIES		Decreased oxygen affinity and cooperativity; normal Bohr effect
STABILITY		Increased dissociation
OCCURRENCE		Found in a 14-year-old Caucasian male and his mother
OTHER INFORMATION		Quantity in the heterozygote ~50%

REFERENCES
1.		Reissmann, K.R., Ruth, W.E., and Nomura, T.: J. Clin. Invest., 40:1826, 1961.
2.		Bonaventura, J. and Riggs, A.: J. Biol. Chem., 243:9890, 1968.
3.		Bunn, H.F.: J. Clin. Invest., 48:126, 1969.
4.		Gibson, Q.H., Riggs, A., and Imamura, T.: J. Biol. Chem., 248:5976, 1973.

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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.