Hb Machida beta6(A3)Glu->Gln
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves with the mobility of Hb S by IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAG->CAG at codon 6
FUNCTION STUDIES Normal
STABILITY Not reported
OCCURRENCE Found in a Japanese family
OTHER INFORMATION Quantity in the heterozygote 40-43%
       
REFERENCES
1. Harano, T., Harano, K., Ueda, S., Shibata, S., Imai, K., and Seki, M.: Hemoglobin, 6:531, 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.