Hb Bois Guillaume	alpha65(E14)Ala->Val

CONTACT		External
HEMATOLOGY		Mild anemia in the proband; others were normal
ELECTROPHORESIS		Partial separation of Hb X and Hb A by IEF
CHROMATOGRAPHY		Partial separation of Hb X and Hb A by cation exchange HPLC; no separation of alpha chains by reversed phase HPLC
STRUCTURE STUDIES		Tryptic digestion of AE-alphaA+alphaX chains; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GCG->GTG at codon 65; alpha2 or alpha1
FUNCTION STUDIES		Not reported; oxygen binding properties of red cells normal
STABILITY		Mildly unstable
OCCURRENCE		Found in members of a French family
OTHER INFORMATION		Quantity in the heterozygote ~20%

REFERENCES
1.		Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A.M., Groff, P., Bardakdjian, J., Prehu, C., Riou, J., Godard, C., and Galacteros, F.: Hemoglobin, 19:281, 1995.

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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.