MUTATION		Codon 15 (G->A); TGG(Trp)->TAG(stop codon)
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This change of one nucleotide results in the termination of translation at codon 15
IDENTIFICATION		Cloning of the beta-globin gene and DNA sequencing; amplification and DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Asian Indians; Turks
HAPLOTYPE		II ; [- O + + - + + +]; others
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb Lulu Island [beta107(G9)Gly->Asp] causing a thalassemia intermedia (Hb 8.5 g/dl; MCV 79 fl; MCH 20 pg; Hb A2 6.6%; Hb F 2.7%)
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With various alleles
OTHER INFORMATION		None

REFERENCES
1.		Kazazian, H.H., Jr., Orkin, S.H., Antonarakis, S.E., Sexton, J.P., Boehm, C.D., Goff, S.C., and Waber, P.G.: The EMBO J., 3:593, 1984.
2.		Aulehla-Scholz, C., Basaran, S., Agaoglu, L., Arcasoy, A., Holzgreve, W., Miny, P., Ridolfi, F., and Horst, J.: Hum. Genet., 84:195, 1990.
3.		Gray, G.R., Manson, H.E., Gu, L-H., Leonova, J.Ye., and Huisman, T.H.J.: Am. J. Hematol., 50:26, 1995.

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This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 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 permission in writing from the Author.