MUTATION		Codon 15 (-T); TGG(Trp)->-GG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The frameshift results in termination of translation at codon 18 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; cloning; DNA sequencing; dot-blot hybridization with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		None observed
OCCURRENCE		In a Malay family
HAPLOTYPE		I [+ O - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With the AATAAA->AACAAA poly A mutation; the combination causes thalassemia major; hematological data are not reported
OTHER INFORMATION		The deletion of T creates a restriction site for EcoRI; this change can be used for its detection

REFERENCES
1.		Fucharoen, S., Fucharoen, G., Ata, K., Aziz, S., Hashim, S., Hassan, K., and Fukumaki, Y.: Acta Haematol., 84:82, 1990.

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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.