Hb Yatsushiro beta60(E4)Val->Leu
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves slower than Hb A
CHROMATOGRAPHY Hb X elutes after Hb A on a CM-cellulose column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->CTG at codon 60
FUNCTION STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in a Japanese individual
OTHER INFORMATION Quantity in the heterozygote 45%; the electrophoretic and chromatographic separation of Hb X and Hb A is surprising; reevaluation of this variant is desirable; perhaps there is an additional amino acid replacement that was overlooked
       
REFERENCES
1. Kagimoto, T., Morino, Y., and Kishimoto, S.: Biochim. Biophys. Acta, 532:195, 1978.


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.