Hb Loire	alpha88(F9)Ala->Ser

CONTACT		Internal
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		No separation of Hb X and Hb A by routine electropho-retic methods; it focuses between Hb A and Hb F (near Hb F) on IEF
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Hb X was isolated by preparative IEF; the alphaX and beta chains were separated by CM-cellulose chromatography; the tryptic peptides were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GCG->TCG; alpha2 or alpha1
FUNCTIONAL STUDIES		Increased oxygen affinity
STABILITY		More stable than Hb A
OCCURRENCE		Found in a family of Algerian-French descent
OTHER INFORMATION		Quantity in heterozygotes 25-30%

REFERENCES
1.		Baklouti, F., Baudin-Chich, V., Kister, J., Marden, M., Teyssier, G., Poyart, C., Delaunay, J., and Wajcman, H.: Eur. J. Biochem., 177:307, 1988.

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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.