Hb Providence beta82(EF6)Lys->Asn->Asp
CONTACT 2,3-DPG contact
HEMATOLOGY Mild polycythemia in the heterozygote
ELECTROPHORESIS Two fast-moving Hb variants observed at alkaline pH; one (X-Asp) moves like Hb J, and the second (X-Asn) moves between Hb J and Hb A
CHROMATOGRAPHY Both components can be isolated by DEAE-Sephadex chromatography; they also separate by cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->AAT or AAC at codon 82
FUNCTION STUDIES Decreased oxygen affinity and 2,3-DPG binding; normal cooperativity
OCCURRENCE Found in members of a Black family and in a Japanese family
OTHER INFORMATION Quantity in the heterozygote: X-Asn 13-19%; X-Asp 32-33%
1. Moo-Penn, W.F., Jue, D.L., Bechtel, K.C., Johnson, M.H., Schmidt, M., McCurdy, P.R., Fox, J., Bonaventura, J., Sullivan, B., and Bonaventura, C.: J. Biol. Chem., 251:7557, 1976.
2. Bonaventura, J., Bonaventura, C., Sullivan, B., Ferruzzi, G., McCurdy, P., Fox, J., and Moo-Penn, W.F.: J. Biol. Chem., 251:7563, 1976.
3. Charache, S., Fox, J., McCurdy, P., Kazazian, H., Jr., and Winslow, R.: J. Clin. Invest., 59:652, 1977.
4. Harano, K.: Kawasaki Med. J., 8:1, 1982.

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.