MUTATION		Codons 28/29 (-G); CTG·GGC(Leu·Gly)->CTG·-GC
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift leads to a premature termination of translation at codon 60 (TGA = stop codon)
IDENTIFICATION		Amplification of the beta-globin gene; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In four Japanese families; in a few Egyptian families
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None reported
OTHER INFORMATION		None

REFERENCES
1.		Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191, 1997.
2.		El-Hashemite, N., Petrou, M., Khalifa, A.S., Heshmat, N.M., Rady, M.S., and Delhanty, J.D.A.: Hum. Genet., 99:271, 1997.

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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.