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
STABILITY		Normal
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

REFERENCES
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.

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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.