MUTATION		Codon 88 (+T); CTG(Leu)->CTTG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The insertion of T in codon 88 creates a shift in the reading frame with a premature stop codon at codon 90 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; identification of the mutation by hybridization with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		No details provided
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In an Asian Indian family
HAPLOTYPE		None
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None

REFERENCES
1.		Varawalla, N.Y., Old, J.M., and Weatherall, D.J.: Br. J. Haematol., 79:640, 1991.

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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.