Hb Durham-N.C.	beta114(G16)Leu->Pro

ALSO KNOWN AS		Brescia
CONTACT		Internal
HEMATOLOGY		Moderate anemia in the heterozygote
ELECTROPHORESIS		Not reported
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Not reported
DNA ANALYSES		A CTG->CCG mutation at codon 114
FUNCTION STUDIES		Not reported
STABILITY		Not reported; presumably very unstable
OCCURRENCE		Found in a 29-year-old female of Irish descent, in an Italian family, and in members of two Russian families
OTHER INFORMATION		This is another thalassemic Hb; slightly elevated Hb A2 and Hb F levels in the heterozygote

REFERENCES
1.		deCastro, C.M., Lee, M., Fleenor, D.E., Devlin, B., and Kaufman, R.E.: Blood, 80:6a (Suppl. 1), 1992.
2.		Murru, S.: Personal communication, 1992.
3.		Çürük, M.A., Molchanova, T.P., Postnikov, Yu.V., Pobedimskaya, D.D., Liang, R., Baysal, E., Kolodey, S., Smetanina, N.S., Tokarev, Yu.N., Rumyantsev, A.G., and Huisman,T.H.J.: Am. J. Hematol., 46:329, 1994.

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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.