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
OCCURRENCE Found in two members of a family from Southern France
OTHER INFORMATION Quantity in the heterozygote 30%
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.

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.