Hb E-Saskatoon beta22(B4)Glu->Lys
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves about as Hb A2
CHROMATOGRAPHY Hb X and Hb A separate in cation and anion exchange chromatography; Hb E-Saskatoon and Hb E can be separated by cation exchange HPLC; both elute behind Hb A at slightly different positions in the chromatogram
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAA->AAA at codon 22
OCCURRENCE Found in several families of Scottish descent; the variant might have originated in the Orkney Islands, Scotland; also found in some Turkish families, and in a Japanese male
OTHER INFORMATION Quantity in the heterozygote 35-40%; has been observed in combination with beta-thal
1. Vella, F., Lorkin, P.A., Carrell, R.W., and Lehmann, H.; Can. J. Biochem., 45: 1384, 1967.
2. Tills, D., Muir, V., Warlow, A., Hopkinson, D.A., Lorkin, P.A., El-Hazmi, M.A.F., and Lehmann, H.: Hum. Genet., 33:179, 1976.
3. Gurgey, A., Sipahioglu, M., and Aksoy, M.: Hemoglobin, 14:449, 1990.
4. Igarashi, Y., Matsuzaki, S., Kanou, N., Inami, S., Nakamura, T., Kasai, K., and Fushitani, K.: Hemoglobin, 19:403, 1995.

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.