Hb Bunbury beta94(FG1)Asp->Asn
CONTACT External
HEMATOLOGY Mild erythrocytosis in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X is located in the position of Hb F; at acidic pH it moves between Hb A and Hb S
CHROMATOGRAPHY Hb X can be isolated by DE-52 cellulose chromatography
STRUCTURE STUDIES Tryptic digestion of the betaX chain; separation of the peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->AAC at codon 94
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect
OCCURRENCE Found in an Italian family in Australia and in a Caucasian family in Philadelphia, PA, USA
OTHER INFORMATION Quantity in the heterozygote 38-40%
1. Como, P.F., Kennett, D., Wilkinson, T., and Kronenberg, H.: Hemoglobin, 7:413, 1983.
2. Ballas, S.K., Park, D., Fernandez, L., Hine, T.K., Jue, D.L., Johnson, M.H., and Moo-Penn, W.F.: Hemoglobin, 16:281, 1992.

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.