Hb Pontoise	alpha63(E12)Ala->Asp

ALSO KNOWN AS		J-Pontoise
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%

REFERENCES
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.

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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.