Hb Kariya alpha40(C5)Lys->Glu
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X separates from Hb A as a fast-moving variant at alkaline pH; excellent separation by IEF
CHROMATOGRAPHY Hb X was isolated by DEAE-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting on paper or by reversed phase HPLC; amino acid analysis; sequencing of the alphaT-5,6 peptide
DNA ANALYSES Not reported; presumed mutation AAG->GAG; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity; decreased heme-heme interaction, 2,3-DPG, and Bohr effect
STABILITY Mildly unstable
OCCURRENCE Found in a Japanese family; also an American Caucasian family
OTHER INFORMATION Quantity in heterozygotes 14-19%
1. Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Yamada, H., Seki, M., and Fukui, H.: FEBS Lett., 153:332, 1983.
2. Nakatsuji, T., Headlee, M.G., and Huisman, T.H.J.: Hemoglobin, 8:401, 1984.

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.