Hb M-Saskatoon beta63(E7)His->Tyr
ALSO KNOWN AS M-Emory; M-Kurume; M-Hida; M-Radom; M-Arthus; M-Chicago; Leipzig; Hörlein-Weber; Novi Sad; M-Erlangen
CONTACT External; surface crevice; "distal histidine"
HEMATOLOGY Compensated hemolytic anemia in the heterozygote; ferriHb; cyanosis
ELECTROPHORESIS Hb X and Hb A have about the same mobility at alkaline pH; when converted to metHb, Hb X moves faster than Hb A at pH 7.0
CHROMATOGRAPHY Hb X was isolated on Amberlite IRC-50 (elutes after Hb A); DEAE-Sephadex (incompletely separated from Hb A2)
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CAT->TAT at codon 63
FUNCTION STUDIES Oxygen affinity reported as normal or decreased by different investigators
STABILITY Unstable; dissociates into dimers at pH 10.1
OCCURRENCE Found in families from Georgia, USA, Japan, England, Denmark, Norway, Yugoslavia, Canada, Poland, etc.
OTHER INFORMATION The variant often occurs as a de novo mutation; quantity in heterozygotes 24-27%; absorption maxima 490-598 nm, which is specific for this variant
1. Gerald, P.S. and Efron, M.L.: Proc. Natl. Acad. Sci. USA, 47:1758, 1961.
2. Shibata, S., Miyaji, T., Iuchi, I., and Ueda, S.: Acta Haematol. Jpn., 24:486, 1961.
3. Josephson, A.M., Weinstein, H.G., Yakulis, V.J., Singer, L., and Heller, P.: J. Lab. Clin. Med., 59:918, 1962.

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.