Hb Chesterfield beta28(B10)Leu->Arg
         
CONTACT Internal
HEMATOLOGY Severe heterozygous beta-thal
ELECTROPHORESIS No abnormal Hb could be detected on electrophoresis at pH 8.6 but separation of in vitro labeled globin chains showed a betaX peak eluting after the normal betaA chain
CHROMATOGRAPHY No separation reported (see above)
STRUCTURE STUDIES None reported
DNA ANALYSES A CTG->CGG mutation at codon 28
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in a 34-year-old English woman
OTHER INFORMATION The mutation at codon 28 abolishes a Bst NI restriction site that will aid in the identification
       
REFERENCES
1. Thein, S.L., Best, S., Sharpe, J., Paul, B., Clark, D.J., and Brown, M.J.: Blood, 77:2791, 1991.


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.