MUTATION		Codons 71/72 (+A); TTT·AGT(Phe·Ser)->TTT·A·AGT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL
MECHANISM		Introduction of A between codons 71 and 72 changes the reading frame and terminates translation at the new codon 73 (TGA)
IDENTIFICATION		Cloning and amplification of the beta-globin gene; DNA se-quencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In Chinese and other East Asian populations, usually at low frequencies (see Tables XII and XIII)
HAPLOTYPE		II [+ O - - - - + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Cheng, T-C., Orkin, S.H., Antonarakis, S.E., Potter, M.J., Sexton, J.P., Markham, A.F., Giardina, P.J.V., Li, A., and Kazazian, H.H., Jr.: Proc. Natl. Acad. Sci. USA, 81:2821, 1984.

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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.