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.

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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.