Hb Hijiyama beta120(GH3)Lys->Glu
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X is fast moving
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of the peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAA->GAA at codon 120
STABILITY Not reported
OCCURRENCE Found in the mother and son of a Japanese family, and a diabetic Finnish boy
OTHER INFORMATION Quantity in the heterozygote 58%
1. Miyaji, T., Oba, Y., Yamamoto, K., Shibata, S., Iuchi, I., and Hamilton, H.B.: Science, 159:204, 1968.
2. Puukka, R., Hekali, R., Åkerblom, H.K., Käär, M-L., Dukes, M., and Lehmann, H.: Clin. Chim. Acta, 121:51, 1982.

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.