Hb Malmö beta97(FG4)His->Gln
CONTACT External; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote
ELECTROPHORESIS No separation of Hb X and Hb A by standard techniques; partial resolution by IEF
CHROMATOGRAPHY Hb X can be separated from Hb A by DEAE-Sephadex chromatography; Hb X elutes after, but not well-separated from Hb A
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES A CAC->CAA and a CAC->CAG mutation at codon 97; two different mutations observed in two unrelated Swedish families (Ref. 4)
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr effect
OCCURRENCE Found in several Swedish, English, and German families
OTHER INFORMATION Quantity in the heterozygote 48%
1. Lorkin, P.A., Lehmann, H., Fairbanks, V.F., Berglund, G., and Leonhardt, T.: Biochem. J., 119:68, 1970.
2. Boyer, S.H., Charache, S., Fairbanks, V.F., Maldonado, J.E., Noyes, A., and Gayle, E.E.: J. Clin. Invest., 51:666, 1972.
3. Zak, S.J., Geller, G.R., Krivit, W., Tukey, D., Brimhall, B., Jones, R.T., Bunn, H.F., and McCormack, M.: Br. J. Haematol., 33:101, 1976.
4. Landin, B., Berglund, S., and Wallman, K.: Am. J. Hematol., 51:32, 1996.

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.