Hb Austin beta40(C6)Arg->Ser
CONTACT alpha1beta2 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves between Hb A and Hb F at both alkaline and acidic pH
CHROMATOGRAPHY Hb X and Hb A can be separated by anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography and reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AGG->AGC or AGT at codon 40
FUNCTION STUDIES Increased oxygen affinity; reduced cooperativity; normal Bohr effect
STABILITY Stable; dissociation into dimers when oxygenated
OCCURRENCE Found in three unrelated individuals of Mexican ancestry
OTHER INFORMATION Quantity in the heterozygote 45%
1. 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.