Hb Korle-Bu beta73(E17)Asp->Asn
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X occupies the position of Hb S; no separation at acidic pH
CHROMATOGRAPHY Hb X and Hb A separate by cation and anion exchange chromatography; the betaX and betaA chains separate by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; chymotrypsin digestion; carboxypeptidase; sequencing; mass spectrometry
DNA ANALYSES Not reported; presumed mutation GAT->AAT at codon 73
FUNCTION STUDIES Decreased oxygen affinity; normal Bohr, cooperativity, and 2,3-DPG effects
OCCURRENCE Found in Black families from Ghana, the Ivory Coast, Costa Rica, Mexico, etc.
OTHER INFORMATION Found in combination with Hb S and with Hb C; homozygote is clinically normal
1. Lehmann, H., Beale, D., and Boi-Doku, F.S.: Nature, 203:363, 1964.
2. Konotey-Ahulu, F.I.D., Gallo, E., Lehmann, H., and Ringelhann, B.: J. Med. Genet., 5:107, 1968.
3. Nagel, R.L., Lin, M.J., Witkowska, H.E., Fabry, M.E., Bestak, M., and Hirsch, R.E.: Blood, 82:1907, 1993.

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.