Hb Olmsted beta141(H19)Leu->Arg
         
CONTACT Internal; heme contact
HEMATOLOGY Heinz body hemolytic anemia in the heterozygote
ELECTROPHORESIS No separation reported except of the betaX and betaA chains on starch gel or cellulose acetate in the presence of 6 M urea
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CTG->CGG at codon 141
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in a 12-year-old Caucasian male but not his parents
OTHER INFORMATION Quantity in the heterozygote reported as 5-10%
       
REFERENCES
1. Fairbanks, V.F., Opfell, R.W., and Burgert, E.O.: Am. J. Med., 46:344, 1969.
2. Lorkin, P.A., Lehmann, H., and Fairbanks, V.F.: Biochim. Biophys. Acta, 386: 256, 1975.


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.