Hb Beilinson alpha47(CE5)Asp->Gly
ALSO KNOWN AS Umi; Michigan-I; Michigan-II; Yukuhashi-II; L-Gaslini; Tagawa-II; Kokura; Mugino
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves between Hb S and Hb F on starch gel; moves slightly faster than Hb S on paper; moves slightly ahead of Hb S on cellulose acetate
CHROMATOGRAPHY Hb X can be isolated by DEAE-Sephadex and IRC-50 chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAC->GGC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in Ashkenazi Jews and Japanese families
OTHER INFORMATION Quantity in heterozygotes 11-17%
1. DeVries, A., Joshua, H., Lehmann, H., Hill, R.L., and Fellows, R.E.: Br. J. Haematol., 9:484, 1963.
2. Sumida, I.: Jpn. J. Hum. Genet., 19:343, 1975.
3. Ohba, Y., Hattori, Y., Matsuoka, M., Miyaji, T., and Fuyuno, K.: Hemoglobin, 6: 69, 1982.

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.