MUTATION		IVS-I-2 (T->A); AG^GTTGGT->AGGATGGT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The T->A mutation in the GT dinucleotide, which is required for the normal splicing event, prevents this process completely; no normal mRNA is produced
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in Algerian patients; both heterozygotes and homozygotes have been detected
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband was a compound heterozygote: IVS-I-2 (T->A)/codon 6 (-A)
OTHER INFORMATION		None

REFERENCES
1.		Bouhass, R., Aguercif, M., Trabuchet, G., and Godet, J.: Blood, 76:1054, 1990.

---

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.