Hb Burke	beta107(G9)Gly->Arg

CONTACT		Internal
HEMATOLOGY		Hemolytic anemia in the heterozygote
ELECTROPHORESIS		Hb X and Hb A can be separated at alkaline pH (migrates between Hb S and Hb A) and at acid pH (moves approximately with Hb S)
CHROMATOGRAPHY		Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES		Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation GGC->CGC at codon 107
FUNCTION STUDIES		Decreased oxygen affinity and cooperativity; increased Bohr effect
STABILITY		Unstable
OCCURRENCE		Found in two members of a Caucasian family
OTHER INFORMATION		Quantity in the heterozygote 30%

REFERENCES
1.		Turner, J.W., Jr., Jones, R.T., Brimhall, B., DuVal, M.C., and Koler, R.D.: Biochem. Genet., 14:577, 1976.

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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.