Hb Kanagawa alpha40(C5)Lys->Met
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X separates from Hb A at alkaline pH as a fast-moving variant; excellent separation by IEF
CHROMATOGRAPHY Hb X and Hb A1c elute together by cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Mutation in the alpha2 gene: AAG->ATG at codon 40
FUNCTIONAL STUDIES Increased oxygen affinity, decreased heme-heme interaction and 2,3-DPG effect
STABILITY Normal
OCCURRENCE Found in a 70-year-old Japanese male
OTHER INFORMATION Quantity in the heterozygote about 15%
       
REFERENCES
1. Miyashita, H., Hashimoto, K., Mohri, H., Ohokubo, T., Harano, T., Harano, K., and Imai, K.: Hemoglobin, 16:1, 1992.


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.