Hb Yamagata beta132(H10)Lys->Asn
         
CONTACT External; near central cavity
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A were separated by IEF; Hb X moves faster than Hb A
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Two mutations have been observed: AAA->AAC and AAA-> AAT at codon 132
FUNCTION STUDIES Slightly decreased oxygen affinity
STABILITY Normal
OCCURRENCE Found in members of a Japanese family
OTHER INFORMATION Quantity in the heterozygote 40-45%
       
REFERENCES
1. Harano, T., Harano, K., Ueda, S., Imai, K., and Marubashi, S.: Hemoglobin, 14: 207, 1990.
2. Han, J.Y., Wee, J.H., Kim, J.M., Kim, J.Y., Kim, I.H., and Rodgers, G.P.: Hemoglobin, in press (1996).


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.