Hb City of Hope beta69(E13)Gly->Ser
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separations obtained
CHROMATOGRAPHY No separation reported; the betaX chain elutes between betaA and alpha by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing; FAB mass spectrometry
DNA ANALYSES A GGT->AGT mutation at codon 69 (Refs. 2 and 3)
OCCURRENCE Found in a Caucasian family from California, an Italian family from Naples, a Turkish family, and a Jewish family from Augusta, Georgia
OTHER INFORMATION Quantity in the heterozygote ~50% (Ref. 2); occurred in combination with betao-thal->thalassemia intermedia
1. Rahbar, S., Asmerom, Y., and Blume, K.G.: Hemoglobin, 8:333, 1984.
2. Kutlar, A., Kutlar, F., Aksoy, M., Gurgey, A., Altay, C., Wilson, J.B., Diaz-Chico, J.C., Hu, H., and Huisman, T.H.J.: Hemoglobin, 13:7,1989.
3. De Angioletti, M., Maglione, G., Ferranti, P., de Bonis, C., Lacerra, G., Scarallo, A., Pagano, L., Fioretti, G., Cutolo, R., Malorni, A., Pucci, P., and Carestia, C.: Hemoglobin, 16:27, 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.