Hb Owari alpha121(H4)Val->Met
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X focuses between Hb A and Hb F on IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Hb X was isolated by preparative IEF; alphaA and alphaX were separated by CM-cellulose chromatography; fingerprinting of the soluble peptides and of chymotryptic peptides of the soluble core; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->ATG; alpha2 or alpha1
FUNCTIONAL STUDIES Normal
STABILITY Normal
OCCURRENCE Found in several Japanese families
OTHER INFORMATION Quantity in the heterozygote 12.7-19%
       
REFERENCES
1. Harano, T., Harano, K., and Ueda, S.: Hemoglobin, 10:127, 1986.


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.