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%
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.

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.