Hb Uxbridge beta20(B2)Val->Gly
CONTACT External
HEMATOLOGY Normal in the heterozygote (PCV 0.42 l/l)
ELECTROPHORESIS Hb X moves slower than Hb A on IEF; no separation by cellulose acetate electrophoresis
CHROMATOGRAPHY The betaX and betaA chains separation by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; location of the Val->Gly replacement determined by collision induced dissociation spectral analysis
DNA ANALYSES Not reported; presumed mutation GTG->GGG at codon 20
FUNCTION STUDIES Mildly increased oxygen affinity; Bohr effect and heme-heme interaction are normal
OCCURRENCE Found in an English newborn and her mother
OTHER INFORMATION Quantity in the adult heterozygote ~40%
1. Wajcman, H., Promé, D., Kister, J., Davies, S.C., Galactéros, F., and Henthorn, J.S.: Hemoglobin, 20:339, 1996.

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.