Hb Hamilton beta11(A8)Val->Ile
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation observed at acid and alkaline pH; betaX and betaA separate on PAGE
CHROMATOGRAPHY No separations observed and/or reported
STRUCTURE STUDIES Tryptic digestion of betaA+betaX chains; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTT->ATT at codon 11
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found in an Austrian family living in Canada and in a Chinese family
OTHER INFORMATION Quantity in the heterozygote ~38%; one member of the Chinese family also had Hb H disease (-alpha-4.2/--SEA) (Ref. 2)
       
REFERENCES
1. Wong, S.C., Ali, M.A.M., Lam, H., Webber, B.B., Wilson, J.B., and Huisman, T.H.J.: Am. J. Hematol., 16:47, 1984.
2. Cu, C-W., Liang, S., Liang, R., Wen, X-J., and Tang, C-N.: Hemoglobin, 16:403, 1992.


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.