MUTATION		Codon 28 (-C); CTG(Leu)->-TG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift leads to a premature termination of translation at a new codon 60 (TGA = stop codon)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not found
OCCURRENCE		Found in one Egyptian family
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not done
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not done
OTHER INFORMATION		None

REFERENCES
1.		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.