Hb Wien beta130(H8)Tyr->Asp
         
CONTACT Internal
HEMATOLOGY Heinz body hemolytic anemia in the heterozygote
ELECTROPHORESIS No separation of Hb X and Hb A by conventional techniques
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TAT->GAT at codon 130
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in an Australian male and his daughter, and in a German male
OTHER INFORMATION Quantity in the heterozygote ~25%
       
REFERENCES
1. Kleihauer, E. and Betke, K.: Klin. Wschr., 50:907, 1972.
2. Lorkin, P.A., Pietschmann, H., Braunsteiner, H., and Lehmann, H.: Acta Haematol., 51:351, 1974.


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.