Hb Heathrow	beta103(G5)Phe->Leu

CONTACT		Internal; heme contact
HEMATOLOGY		Erythrocytosis in the heterozygote (PCV 0.63-0.66 l/l)
ELECTROPHORESIS		No separation with standard procedures including IEF
CHROMATOGRAPHY		No separations reported; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaA, betaX, alpha)
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; thermolysin; carboxypeptidases A and B; sequencing
DNA ANALYSES		A TTC->TTG mutation at codon 103 (Ref. 3)
FUNCTION STUDIES		Increased oxygen affinity; decreased cooperativity; normal Bohr effect
STABILITY		Normal
OCCURRENCE		Found in members of two English families and in an individual living in Australia
OTHER INFORMATION		Quantity in the heterozygote 35-45%

REFERENCES
1.		White, J.M., Szur, L., Gillies, I.D.S., Lorkin, P.A., and Lehmann, H.: Br. Med. J., 3:665:1973.
2.		Brennan, S.O., Winterbourn, C.C., and Carrell, R.W.: Hemoglobin, 1:479, 1977.
3.		Marsh, G., Marino, G., Pucci, P., Ferranti, P., Malorni, A., Kaeda, J., Marsh, J., and Luzzatto, L.: Hemoglobin 15:43, 1991.

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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.