Hb Borås beta88(F4)Leu->Arg
         
CONTACT Heme contact
HEMATOLOGY Moderately severe hemolytic anemia; Heinz bodies
ELECTROPHORESIS Hb X moves slower than Hb A at alkaline pH
CHROMATOGRAPHY Hb X elutes behind Hb A2 on a cation exchange HPLC column; the betaX and betaA chains separate on a reversed phase HPLC column (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC or fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CTG->CGG at codon 88
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in members of a Swedish family and a young South African female (her parents are both normal)
OTHER INFORMATION Quantity in the heterozygote ~25%
       
REFERENCES
1. Hollender, A., Lorkin, P.A., Lehmann, H., and Svenson, B.: Nature, 222:953, 1969.
2. Bird, A.R., Elliot, T.E., Wilson, J.B., Webber, B.B., Kutlar, F., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 11:157, 1987.


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.