IVS-I-5.(G-@T).html


MUTATION		IVS-I-5 (G->T)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta⁺ (severe)
MECHANISM		The G->T mutation at nt 5 of IVS-I reduces the efficiency of splicing of the normal 5' splicing site
IDENTIFICATION		Cloning of the beta-globin gene; sequencing; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		One patient (from Northern Europe) was homozygous for this allele and had a severe transfusion-dependent thalassemia major
OCCURRENCE		Mediterranean (haplotype V); Northern Europe (type I)
HAPLOTYPE		V; I
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		One patient was compound heterozygous for the IVS-II-1 (G->A) allele and IVS-I-5 (G->T); transfusion dependent beta-thal major (Mediterranean)
OTHER INFORMATION		None


REFERENCES
1.		Atweh, G.F., Wong, C., Reed, R., Antonarakis, S.E., Zhu, D-E., Ghosh, P.K., Maniatis, T., Forget, B.G., and Kazazian, H.H., Jr.: Blood, 70:147, 1987.

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.