Hb Pontoise alpha63(E12)Ala->Asp
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X separates from Hb A at alkaline pH but not at acidic pH; moves faster than Hb A on cellulose acetate
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GCC->GAC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity, normal Bohr effect, and heme-heme interaction; a normal 2,3-DPG effect
STABILITY Mildly unstable
OCCURRENCE Found in Spanish families
OTHER INFORMATION Quantity in heterozygotes about 12%
1. Thillet, J., Blouquit, Y., Perrone, F., and Rosa, J.: Biochim. Biophys. Acta, 491: 16, 1977.
2. Gonzalez-Redondo, J.M., Wilson, J.B., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 11:47, 1987.

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.