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

REFERENCES
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.

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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.