Hb Swan River alpha6(A4)Asp->Gly
CONTACT External; partly buried
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X appeared as a band with a mobility between Hb F and Hb S on cellulose acetate electrophoresis at pH 8.6; no separation by citrate agar electrophoresis at pH 6.0
CHROMATOGRAPHY Hb A and Hb X are partially separated by DEAE-Sephadex or by CM-cellulose 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 Slightly decreased oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in a Yugoslav woman, in a 24-year-old Caucasian female and her two children in the USA, and in a Japanese male
OTHER INFORMATION Quantity in heterozygotes ~10%
1. Como, P.F., Wilkinson, T., Kronenberg, H., Raven, J.L., Prior, J., and Trent, R.J.: Hemoglobin, 13:393, 1989.
2. Moo-Penn, W.F., Jue, D.J., Johnson, M.H., and Therrell, B.L.: Hemoglobin, 11: 61, 1987.
3. Harano, T., Harano, K., Imai, K., and Terunuma, S.: Hemoglobin, 20:75, 1996.

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.