Hb Poitiers alpha45(CE3)His->Asp
CONTACT External; heme contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X separates from Hb A as a fast-moving band at alkaline pH; no separation at acidic pH; IEF is an excellent procedure to identify Hb X
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion of alphaA chain; separation of tryptic peptides by reversed phase HPLC; amino acid analysis; sequencing of the alphaT-6 peptide
DNA ANALYSES Not reported; presumed mutation CAC->AAC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity and autoxidation
OCCURRENCE Found in three members of a French family
OTHER INFORMATION Quantity in the heterozygote was ~27%
1. Bardakdjian, J., Kister, J., Wajcman, H., Boulard, P., Bohn, B., Blouquit, Y., and Galacteros, F.: Hemoglobin, 18:1, 1994.

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.