Korle-Bu.html

Hb Korle-Bu	beta73(E17)Asp->Asn


ALSO KNOWN AS		G-Accra
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 beta^X and beta^A 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
STABILITY		Normal
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


REFERENCES
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.