Hb Stanmore	beta111(G13)Val->Ala

CONTACT		Internal; alpha1beta1 contact
HEMATOLOGY		No data available for the simple heterozygote; the proband is compound heterozygous for Hb X and a beta-thal (Hb 8.5 g/dl)
ELECTROPHORESIS		No separations observed
CHROMATOGRAPHY		No separations observed; reversed phase HPLC showed no betaA chain but a betaX chain was eluted in the normal pre-beta position
STRUCTURE STUDIES		Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GTC->GCC at codon 111
FUNCTION STUDIES		Decreased oxygen affinity
STABILITY		Unstable
OCCURRENCE		Found in a 20-year-old female of Italian descent
OTHER INFORMATION		The parents did not carry the variant but were heterozygous for a beta-thal; non-paternity was not excluded

REFERENCES
1.		Como, P.F., Wylie, B.R., Trent, R.J., Bruce, D., Volpato, F., Wilkinson, T., Kronenberg, H., Holland, R.A.B., and Tibben, E.A.: Hemoglobin, 15:53, 1991.

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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.