Hb Kempsey beta99(G1)Asp->Asn
CONTACT Internal; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.52-0.63 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves about as Hb F; Hb X moves like Hb S at acidic pH
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAT->AAT at codon 99
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr effect
STABILITY Not reported
OCCURRENCE Found in members of a family of Irish descent; a male of French ancestry, and in two Black families
OTHER INFORMATION Quantity in the heterozygote 45-48%
1. Reed, C.S., Hampson, R., Gordon, S., Jones, R.T., Novy, M.J., Brimhall, B., Edwards, M.J., and Koler, R.D.: Blood, 31:623, 1968.
2. Ogata, R.T. and McConnell, H.M.: Biochemistry, 11:4792, 1972.
3. Lindstrom, T.R., Baldassare, J.J., Bunn, H.F., and Ho, C.: Biochemistry, 12: 4212, 1973.
4. Bunn, H.F., Wohl, R.C., Bradley, T.B., Cooley, M., and Gibson, Q.H.: J. Biol. Chem., 249:7402, 1974.
5. Nagai, M., Nishibu, M., Sugita, Y., Yoneyama, Y., Jones, R.T., and Gordon, S.: J. Biol. Chem., 250:3169, 1975.

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.