MUTATION		IVS-II-705 (T->G); GATGTAAGA->GAG^GTAAGA
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta+
MECHANISM		This mutation likely interferes indirectly with normal splicing because a new splicing site is created
IDENTIFICATION		Cloning of the beta-globin gene; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Mediterraneans
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		Four additional mutations observed in the IVS-II (C->T at 16; G->T at 74; C->T at 81; T->C at 666) which likely are polymorphisms

REFERENCES
1.		Dobkin, C., Pergolizzi, R.G., Bahre, P., and Bank, A.: Proc. Natl. Acad. Sci. USA, 80:1184, 1983.

---

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.