MUTATION		IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta+
MECHANISM		The T->G mutation decreases normal splicing
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not presented
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Saudi Arabian individual with transfusion-dependent beta-thal major and in a 10-year-old patient from Taiwan
HAPLOTYPE		[- O - - - + - +] (Saudi Arabian)
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With the codons 41/42 (-TTCT) frameshift: Hb 5.9 g/dl; Hb F 77%; Hb A2 1.4%; Hb A 21.6% (Taiwanese); with the IVS-I-110 (G->A) mutation (Saudi Arabian)
OTHER INFORMATION		None

REFERENCES
1.		Wong, C., Antonarakis, S.E., Goff, S.C., Orkin, S.H., Forget, B.G., Nathan, D.G., Giardina, P.J.V., and Kazazian, H.H., Jr.: Blood, 73:914, 1989.
2.		Chiou, S.S., Chang, T.T., Chen, P.H., Lee, L.S., Chen, T.S., and Chang, J.G.: Br. J. Haematol., 83: 112, 1993.

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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.