Hb Saint Nazaire	beta103(G5)Phe->Ile

CONTACT		Internal; heme contact
HEMATOLOGY		Erythrocytosis in the heterozygote (PCV 0.505-0.535 l/l)
ELECTROPHORESIS		No separations by standard methodology; broadening of the Hb A band by IEF
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; separation of the peptides by reversed phase HPLC; amino acid analysis; electrospray mass spectral analysis
DNA ANALYSES		Not reported; presumed mutation TTC->ATC at codon 103
FUNCTION STUDIES		Increased oxygen affinity
STABILITY		Stable
OCCURRENCE		Found in five subjects in four French families
OTHER INFORMATION		The increased oxygen affinity of this variant is much less marked than that observed for Hb Heathrow (beta103 Phe->Leu); presumably the introduction of an isoleucyl residue causes less structural modification than that of a leucine residue that results in the loss of contacts between the heme group and globin

REFERENCES
1.		Wajcman, H., Kister, J., M'Rad, A., Prome, D., Milpied, N., Rapp, M.J., Harousseau, J.L., Riou, J., Bardakdjian, J., and Galacteros, F.: Am. J. Hematol., 44:16, 1993.

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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.