Hb Dhonburi	beta126(H4)Val->Gly

ALSO KNOWN AS		Neapolis
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
STABILITY		Unstable
OCCURRENCE		Found in a Thai family, three Italian families, and a few German families
OTHER INFORMATION		Quantity in the heterozygote is ~30%; thalassemic features

REFERENCES
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.

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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.