Hb Kofu beta84(EF8)Thr->Ile
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A do not separate at alkaline pH; best separation by IEF using narrow pH-range ampholytes; Hb X moves slightly faster than Hb A
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation ACC->ATC at codon 84
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found in a 73-year-old Japanese male
OTHER INFORMATION Quantity of Hb X 48.5%
       
REFERENCES
1. Harano, T., Harano, K., Ueda, S., Imai, N., and Kitazumi, T.: Hemoglobin, 10:417, 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.