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
OCCURRENCE Found in members of two English families and in an individual living in Australia
OTHER INFORMATION Quantity in the heterozygote 35-45%
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.

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.