Hb Montgomery alpha48(CE6)Leu->Arg
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate by both alkaline and acidic pH; moves between Hb S and Hb F on cellulose acetate; moves as Hb G on starch gel; moves between Hb A and Hb S on citrate agar
CHROMATOGRAPHY Hb X and Hb A separate by anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by cation exchange chromatography or reversed phase HPLC; amino acid analysis
DNA ANALYSES Mutation in the alpha2 gene: CTG->CGG at codon 48 (Ref. 4)
FUNCTIONAL STUDIES Not reported
STABILITY Normal
OCCURRENCE Found in Black and Chinese families
OTHER INFORMATION Quantity in heterozygotes 17-20%
       
REFERENCES
1. Brimhall, B., Jones, R.T., Schneider, R.G., Hosty, T.S., Tomlin, G., and Atkins, R.: Biochim. Biophys. Acta, 379:28, 1975.
2. Huisman, T.H.J., Gravely, M.E., Wilson, J.B., Webber, B., Felice, A.E., and Miller, A.: Am. J. Hematol., 8:139, 1980.
3. Zeng, Y-T., Huang, S-Z., Dong, Z-Y., Lam, H., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 6:213, 1982.
4. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.


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.