Hb Athens-GA beta40(C6)Arg->Lys
CONTACT alpha1beta2 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH and by IEF; Hb X moves slightly slower than Hb A
CHROMATOGRAPHY Hb X and Hb A were separated by both cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; peptides separated by cation exchange chromatography or reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AGG->AAG at codon 40
FUNCTION STUDIES Increased oxygen affinity; Bohr effect and cooperativity normal
OCCURRENCE Found in a few Caucasian families in the Southeastern USA
OTHER INFORMATION Quantity in the heterozygote 47.4-51.4%
1. Brown, W.J., Niazi, G.A., Jayalakshmi, M., Abraham, E.C., and Huisman, T.H.J.: Biochim. Biophys. Acta, 439:70, 1976.
2. Moo-Penn, W.F., Johnson, M.H., Bechtel, K.C., Jue, D.L., Therrell, B.L., Jr., and Schmidt, R.M.: Arch. Biochem. Biophys., 179:86, 1977.

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.