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
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
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.

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.