Hb Windsor	beta11(A8)Val->Asp

CONTACT		Internal
HEMATOLOGY		Hemolytic anemia with Heinz bodies
ELECTROPHORESIS		A fast-moving band was seen on cellulose acetate; best separation of Hb X and Hb A by IEF
CHROMATOGRAPHY		No separation observed/reported
STRUCTURE STUDIES		Tryptic digestion of mixture of betaA+betaX chains; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation GTT->GAT at codon 11
FUNCTION STUDIES		Increased oxygen affinity (determined for total blood or red cells)
STABILITY		Unstable
OCCURRENCE		Found in a 9-month-old female of Anglo-Saxon descent; the variant was not present in the parents, suggesting a de novo mutation
OTHER INFORMATION		Quantity estimated at about 30%

REFERENCES
1.		Gilbert, A.T., Fleming, P.J., Sumner, D.R., Hughes, W.G., Holland, R.A.B., and Tibben, E.A.: Hemoglobin, 13:437, 1989.

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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.