Hb Radcliffe beta99(G1)Asp->Ala
CONTACT Internal; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.48-0.58 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; the major Hb X band moves just ahead of Hb S
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides was by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAT->GCT at codon 99
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity and Bohr effect
STABILITY Abnormal polymerization
OCCURRENCE Found in three members of an English family
OTHER INFORMATION Quantity in the heterozygote not reported
1. Weatherall, D.J., Clegg, J.B., Callender, S.T., Wells, R.M.G., Gale, R.E., Huehns, E.R., Perutz, M.F., Viggiano, G., and Ho, C.: Br. J. Haematol., 35:177, 1977.

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.