MUTATION		Codons 47/48 (+ATCT); GAT·CTG(Asp-Leu)->GAT·CTATCTG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The insertion of ATCT results in a frameshift with a nonsense mutation at the new codon 53 (TGA) and premature termination of translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; confirmation with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In one patient from the Punjab (Sikh); in a second Sikh family living in the United Arab Emirates
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Garewal, G., Fearon, C.W., Warren, T.C., Marwaha, N., Marwaha, R.K., Mihadik, C., and Kazazian, H.H., Jr.: Br. J. Haematol., 86:372, 1994.
2.		El-Kalla, S. and Mathews, A.R.: Hemoglobin, 19:183, 1995.

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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.