MUTATION		5'UTR; +43 to +40 (-AAAC)
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta+
MECHANISM		Not entirely clear; decreased transcription
IDENTIFICATION		Amplification of the beta-thal gene; DNA sequencing; dot-blot hybridization with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not presented
HEMATOLOGY IN HOMOZYGOTE(S)		Not presented
OCCURRENCE		In a Chinese female
HAPLOTYPE		Not presented
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		More recent in vitro studies (Ref. 2) have indicated that this 4 bp deletion is not responsible for the beta-thal phenotype in this person

REFERENCES
1.		Huang, S-Z., Xu, Y-H., Zeng, F-Y., Wu, D-F., Ren, Z-R., and Zeng, Y-T.: Br. J. Haematol., 78:125, 1991.
2.		Frances, V., Morle, F., and Godet, J.: Br. J. Haematol., 84:163, 1993.

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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.