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%
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.

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.