Hb Hasharon alpha47(CE5)Asp->His
ALSO KNOWN AS Sinai; Sealy; L-Ferrara
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at both alkaline and acidic pH; moves as Hb S on paper, starch gel, and cellulose acetate; moves between Hb S and Hb C on citrate agar
CHROMATOGRAPHY Hb X can be separated from Hb A by both cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic peptides were separated by fingerprinting or by cation exchange chromatography; amino acid analysis
DNA ANALYSES Mutation in the alpha2 gene: GAC->CAC at codon 47 (Ref. 4)
OCCURRENCE Found in Ashkenazi Jews and Italian families
OTHER INFORMATION Quantity in heterozygotes 14-19% (Jews)
1. Halbrecht, I., Isaacs, W.A., Lehmann, H., and Ben-Porat, F.: Israel J. Med. Sci., 3:827, 1967.
2. Ostertag, W. and Smith, E.W.: Humangenetik, 6:377, 1968.
3. Schneider, R.G., Ueda, S., Alperin, J.B., Brimhall, B., and Jones, R.T.: Am. J. Hum. Genet., 20:151, 1968.
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.