Hb Randwick beta15(A12)Trp->Gly
         
CONTACT Internal; A-E helices spacer
HEMATOLOGY Normal in the heterozygote; mild reticulocytosis
ELECTROPHORESIS Hb X moves faster than Hb A on cellulose acetate at alkaline pH; Hb X and Hb A can be separated by IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of betaX chain; fingerprinting by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation TGG->GGG at codon 15
FUNCTION STUDIES Normal
STABILITY Unstable
OCCURRENCE Found in members of a Northern Italian family
OTHER INFORMATION Quantity in the heterozygote estimated at 48-50%
       
REFERENCES
1. Gilbert, A.T., Fleming, P.J., Sumner, D.R., Hughes, W.G., Ip, F., Kwan, Y.L., and Holland, R.A.B.: Hemoglobin, 12:149, 1988.


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.