Hb Toyama alpha136(H19)Leu->Arg
         
CONTACT Heme contact
HEMATOLOGY Congenital Heinz body anemia in the heterozygote
ELECTROPHORESIS No abnormality was noted at alkaline pH; Hb X is so unstable that it is difficult to detect
CHROMATOGRAPHY Hb X can be isolated by anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CTG->CGG; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in three members of a Japanese family
OTHER INFORMATION Quantity in heterozygotes is low because of its instability
       
REFERENCES
1. Ohba, Y., Yamamoto, K., Hattori, Y., Kawata, R., and Miyaji, T.: Hemoglobin, 11: 539, 1987.


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.