Hb Valparaiso alpha88(F9)Ala->Gly
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X focuses at a pI slightly higher than Hb A and migrates between Hb A and Hb F on cellulose acetate; Hb X and Hb A can be separated by IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Hb X was isolated by preparative IEF and digested with trypsin; tryptic peptides were separated by reversed phase HPLC; amino acid analysis; peptide alphaXT-9 was digested with protease V8
DNA ANALYSES Not reported; presumed mutation GCG->GGG; alpha2 or alpha1
FUNCTIONAL STUDIES Slight increase in oxygen affinity
STABILITY Not reported
OCCURRENCE Found in members of a Chilean family
OTHER INFORMATION Quantity in the heterozygote ~27%
       
REFERENCES
1. Wajcman, H., de Montalembert, M., Girot, R., Kister, J., Maier-Redelsperger, M., and Galacteros, F.: Hemoglobin, 18:275, 1994.


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.