Hb Dhonburi beta126(H4)Val->Gly
CONTACT External
HEMATOLOGY Mild anemia in the heterozygote; microcytosis and hypochromia
ELECTROPHORESIS No separation of Hb X and Hb A by standard procedures; partial separation of Hb X and Hb A by IEF
CHROMATOGRAPHY No separation reported; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES A GTG->GGG mutation at codon 126 (Ref. 3)
FUNCTION STUDIES Probably normal
OCCURRENCE Found in a Thai family, three Italian families, and a few German families
OTHER INFORMATION Quantity in the heterozygote is ~30%; thalassemic features
1. Bardakdjian-Michau, J., Fucharoen, S., Delanoe-Garin, J., Kister, J., Lacombe, C., Winichagoon, P., Blouquit, Y., Riou, J., Wasi, P., and Galacteros, F.: Am. J. Hematol., 35:96, 1990.
2. Pagano, L., Lacerra, G., Carmadella, L., De Angioletti, M., Fioretti, G., Maglione, G., de Bonis, C., Guarino, E., Viola, A., Cutolo, R., De Rosa, L., and Carestia, C.: Blood, 78: 3070, 1991.
3. Divoky, V., Bissé, E., Wilson, J.B., Gu, L-H., Wieland, H., Heinrichs, I., Prior, J.F., and Huisman, T.H.J.: Biochim. Biophys. Acta, 1180:173, 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.