Hb M-Boston alpha58(E7)His->Tyr
ALSO KNOWN AS M-Osaka; M-Gothenburg; M-Kiskunhalas; M-Norin
CONTACT Distal histidine; heme contact
HEMATOLOGY Cyanosis in the heterozygote; normal hematology
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline and acidic pH; Hb X moves slower than Hb A on agar gel and moves as Hb A on paper and starch gel; best separation by IEF
CHROMATOGRAPHY Hb X was isolated on an Amberlite CG-50 column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CAC->TAC; alpha2 or alpha1
FUNCTIONAL STUDIES Decreased oxygen affinity; no Bohr effect; decreased cooperativity
OCCURRENCE Found in German, Swedish, Dutch, Hungarian, and Japanese families
OTHER INFORMATION Quantity in heterozygotes 20-30%
1. Gerald, P.S. and Efron, M.L.: Proc. Natl. Acad. Sci. USA, 47:1758, 1961.
2. Pulsinelli, P.D., Perutz, M.F., and Nagel, R.L.: Proc. Natl. Acad. Sci. USA, 70: 3870, 1973.
3. Nishikura, K., Sugita, Y., Nagai, M., and Yoneyama, Y.: Nature, 254:727, 1975.
4. Takahashi, S., Lin, A.K-L.C., and Ho, C.: Biochemistry, 19:5196, 1980.

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.