MUTATION		IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Change in the consensus acceptor sequence (AG->AA) prevents splicing
IDENTIFICATION		Amplification of DNA; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not available
HEMATOLOGY IN HOMOZYGOTE(S)		Transfusion-dependent beta-thal major
OCCURRENCE		Found in a young Turkish patient (homozygote) and in an Egyptian child
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The Egyptian compound heterozygote [IVS-I-6(T->C)/ IVS-I-130(G->A)] had a thalassemia intermedia: Hb 8.6 g/dl;PCV 0.25 l/l; microcytosis; hypochromia; Hb A2 4.2%; Hb F 40.0%
OTHER INFORMATION		None

REFERENCES
1.		Öner, R., Altay, Ç., Gurgey, A., Aksoy, M., Kilinç, Y., Stoming, T.A., Reese, A.L., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 14:1, 1990.
2.		Deidda, G., Novelletto, A., Hafez, M., Al-Tonbary, Y., Felicetti, L., Terrenato, L., and Colombo, B.: Hemoglobin, 14:431, 1990.
3.		Tadmouri, G.O., Bilenoglu, O., Kantarci, S., Kayserili, H., Perrin, P., and Basak, A.N.: Abstract 224, 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, April 1997.

---

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.