Hb Villejuif beta123(H1)Thr->Ile
CONTACT External; alpha1beta1 contact
HEMATOLOGY Probably normal in the heterozygote; the only known carrier had a coincidental polycythemia vera
ELECTROPHORESIS Hb X and Hb A do not separate at alkaline pH; an abnormal band, close to Hb A, was observed by IEF
CHROMATOGRAPHY No separation reported; the betaX and betaA chains can be separated by reversed phase HPLC (see reference for techniques)
STRUCTURE STUDIES Tryptic digest of partially purified betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation ACC->ATC at codon 123
OCCURRENCE Found in an 87-year-old woman of French extraction
OTHER INFORMATION Quantity in the heterozygote not determined
1. Wajcman, H., Mrad, A., Blouquit, Y., Parmentier, C., Riou, J., and Galacteros, F.: Am. J. Hematol., 32:294, 1989.

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.