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
STABILITY		Normal
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%

REFERENCES
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.