Hb Sawara alpha6(A4)Asp->Ala
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves slightly slower than Hb F in starch gel electrophoresis at pH 8.6
CHROMATOGRAPHY Hb X elutes as a shoulder in front of Hb A on a DEAE-Sephadex column
STRUCTURE STUDIES tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAC->GCC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity; normal Bohr effect
STABILITY Normal
OCCURRENCE In three members of a Japanese family
OTHER INFORMATION Quantity in heterozygotes 17%
       
REFERENCES
1. Sumida, I., Ohta, Y., Imamura, T., and Yanase, T.: Biochim. Biophys. Acta, 322: 23, 1973.
2. Sumida, I., Jpn. J. Hum. Genet., 19:343, 1975.
3. Sasaki, J., Imamura, T., Sumida, T., Yanase, T., and Ohya, M.: Biochim. Biophys. Acta, 495:183, 1977.


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.