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
OCCURRENCE Found in members of an Italian-German-French family
OTHER INFORMATION Quantity in heterozygotes 30-35%
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.

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.