Hb Sögn beta14(A11)Leu->Arg
         
CONTACT Surface crevice
HEMATOLOGY Normal hematology but Heinz bodies can be seen after incubation for 2 hours with acetylphenylhydrazine
ELECTROPHORESIS Hb X moves as Hb S on paper, starch gel, and agar gel at alkaline pH
CHROMATOGRAPHY Separation by cation exchange HPLC (Ref. 3)
STRUCTURE STUDIES Fingerprinting; amino acid analysis
DNA ANALYSES A CTG->CGG mutation at codon 14 (Ref. 3)
FUNCTION STUDIES Normal
STABILITY Mildly unstable
OCCURRENCE Hb Sögn was found in a few Norwegian and American families
OTHER INFORMATION Quantity in the heterozygote 29-32%; also found in combination with alpha-thal
       
REFERENCES
1. Monn, E., Gaffney, P.J., and Lehmann, H.: Scand. J. Haematol., 5:353, 1968.
2. Monn, E. and Bjark, P.: Scand. J. Haematol., 7:455, 1970.
3. Miller, D.R., Kazanetz, E.G., Leonova, J.Ye., Smetanina, N.S., and Huisman, T.H.J.: Hemoglobin, in press (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.