MUTATION		IVS-I-2 (T->G); AG^GTTGGT->AGGGTGGT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The T->G change in the GT dinucleotide, needed for the normal splicing event, prevents this process completely and no normal mRNA is produced
IDENTIFICATION		Cloning of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In Tunisian patients; a homozygote has been detected
HAPLOTYPE		IX
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Chibani, J., Vidaud, M., Duquesnoy, P., Bergé-Lefranc, J.L., Pirastu, M., Ellouze, F., Rosa, J., and Goossens, M.: Hum. Genet., 78:190, 1988.

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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.