Hb Creteil	beta89(F5)Ser->Asn

CONTACT		Internal
HEMATOLOGY		Severe erythrocytosis in the heterozygote (PCV 0.65 l/l)
ELECTROPHORESIS		No separation of Hb X and Hb A with conventional techniques; separation is possible by IEF
CHROMATOGRAPHY		Hb X can be isolated by anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation AGT->AAT at codon 89
FUNCTION STUDIES		Greatly increased oxygen affinity; decreased Bohr effect; markedly reduced cooperativity; does not interact with 2,3-DPG
STABILITY		Normal
OCCURRENCE		Found in two members of a family from Southern France
OTHER INFORMATION		Quantity in the heterozygote 30%

REFERENCES
1.		Thillet, J., Blouquit, Y., Garel, M.C., Dreyfus, B., Reyes, F., Cohen-Solal, M., Beuzard, Y., and Rosa, J.: J. Mol. Med., 1:135, 1976.
2.		Poyart, C., Bursaux, E., Teisseire, B., Freminet, A., Duvelleroy, M., and Rosa, J.: Ann. Int. Med., 88:758, 1978.
3.		Arnone, A., Thillet, J., and Rosa, J.: J. Biol. Chem., 256:8545, 1981.

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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.