Hb G-Norfolk alpha85(F6)Asp->Asn
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves just ahead of Hb S at alkaline pH; moves with Hb A on citrate agar at acidic pH
CHROMATOGRAPHY Hb X and Hb A separate by cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->AAC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity
STABILITY Normal
OCCURRENCE Found in a few English families in England and Canada
OTHER INFORMATION Quantity in heterozygotes 18-23%
       
REFERENCES
1. Huntsman, R.G., Hall, M., Lehmann, H., and Sukumaran, P.K.: Br. Med. J., i:720, 1963.
2. Lorkin, P.A., Huntsman, R.G., Ager, J.A.M., Lehmann, H., Vella, F., and Darbre, P.D.: Biochim. Biophys. Acta, 379:22, 1975.
3. Cohen-Solal, M., Manasse, B., Thillet, J., and Rosa, J.: FEBS Lett., 50:163, 1975.


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.