Hb Philly	beta35(C1)Tyr->Phe

CONTACT		alpha1beta1 contact
HEMATOLOGY		Chronic hemolytic anemia in the heterozygote; reticulocytosis
ELECTROPHORESIS		No separation at alkaline pH; Hb X has a slightly higher pI than Hb A in IEF
CHROMATOGRAPHY		No separation reported
STRUCTURE STUDIES		The betaX chain was isolated with pCMB; tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation TAC->TTC at codon 35
FUNCTION STUDIES		Increased oxygen affinity and IHP effect; decreased cooperativity and 2,3-DPG effect
STABILITY		Unstable
OCCURRENCE		Found in members of an Italian-German-French family
OTHER INFORMATION		Quantity in heterozygotes 30-35%

REFERENCES
1.		Rieder, R.F., Oski, F.A., and Clegg, J.B.; J. Clin. Invest., 48:1627, 1969.
2.		Asakura, T., Adachi, K., Wiley, J.S., Fung, L.W-M., Ho, C., Kilmartin, J.V., and Perutz, M.F.: J. Mol. Biol., 104:185, 1976.

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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.