Hb Turriff alpha99(G6)Lys->Glu
         
CONTACT Central cavity
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A on cellulose acetate at alkaline pH, and migrates midway between Hb A and Hb F on agar gel at pH 6.0; excellent separation on IEF
CHROMATOGRAPHY Hb X and Hb A can be separated by cation exchange HPLC
STRUCTURE STUDIES Tryptic peptides of the isolated alpha chains were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->GAG; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Normal
OCCURRENCE Found as a de novo mutation in a diabetic woman of Scottish ancestry and her two daughters
OTHER INFORMATION Quantity in the heterozygote ~22%
       
REFERENCES
1. Langdown, J.V., Davidson, R.J.L., and Williamson, D.: Hemoglobin, 16:11, 1992.


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.