Hb Chesapeake alpha92(FG4)Arg->Leu
         
CONTACT alpha1beta2 contact
HEMATOLOGY (Mild) erythrocytosis in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb J on starch gel at alkaline pH but not on citrate agar at acidic pH
CHROMATOGRAPHY Hb X and Hb A are readily separated by anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CGG->CTG; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr effect; 2,3-DPG and IHP partially restore cooperativity
STABILITY Slightly unstable
OCCURRENCE Found in a German-Irish family and in a Japanese family
OTHER INFORMATION Quantities in heterozygotes 20-35%
       
REFERENCES
1. Clegg, J.B., Naughton, M.A., and Weatherall, D.J.: J. Mol. Biol., 19:91, 1966.
2. Charache, S., Weatherall, D.J., and Clegg, J.B.: J. Clin. Invest., 45:813, 1966.
3. Greer, J.: J. Mol. Biol., 62:241, 1971.
4. Gibson, Q.H. and Nagel, R.L.: J. Biol. Chem., 249:7255, 1974.
5. Imai, K.: J. Biol. Chem., 249:7607, 1974.
6. Jones, C.M., Charache, S., and Hathaway, P.J.: Pediatr. Res., 13:851, 1979.
7. Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., and Imai, K.: Hemoglobin, 7:461, 1983.


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.