MUTATION		IVS-I (-1) or codon 30 (G->A); AG^GTTGGT->AA^GTTGGT
AMINO ACID REPLACEMENT		Position 30 AGG->AAG (Arg->Lys)
TYPE OF BETA-THAL		beta°
MECHANISM		The G->A change in the AG dinucleotide, which is required for normal splicing and is part of codon 30 (the first two nts of the AGG codon), will prevent splicing completely and no normal mRNA is formed
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Bulgarian family
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		The abnormal Hb was not identified

REFERENCES
1.		Kalaydjieva, L., Eigel, A., and Horst, J.: J. Med. Genet., 26:614, 1989.

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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.