Hb M-Milwaukee-I beta67(E11)Val->Glu
CONTACT Heme contact
HEMATOLOGY Ferrihemoglobinemia in the heterozygote
ELECTROPHORESIS Variable patterns because of metHb formation; cyanmetHb X separates from Hb A by alkaline pH; Hb X moves faster than Hb A
CHROMATOGRAPHY Hb X can be isolated by Amberlite CG-50 chromatography; Hb X elutes after Hb A
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GAG at codon 67
FUNCTION STUDIES Decreased oxygen affinity and cooperativity; normal Bohr effect
OCCURRENCE Found in quite a few families in different populations
OTHER INFORMATION Quantity in the heterozygote 26-40%; absorption maxima 500 and 623 nm are specific for this mutation
1. Pisciotta, A.V., Ebbe, S.N., and Hinz, J.E.: J. Lab. Clin. Med., 54:73, 1969.
2. Gerald, P.S. and Efron, M.L.: Proc. Natl. Acad. Sci. USA, 47:1758, 1961.
3. Hayashi, A., Suzuki, T., Imai, K., Morimoto, H., and Watari, H.: Biochim. Bio-phys. Acta, 194:6, 1969.
4. Udem, L., Ranney, H.M., Bunn, H.F., and Pisciotta, A.: J. Mol. Biol., 48:489, 1970.

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.