MUTATION		IVS-II-745 (C->G); CAGCTACCAT->CAG^GTACCAT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta+
MECHANISM		This mutation creates a new splicing site which is preferentially used
IDENTIFICATION		Cloning and amplification of the beta-globin gene; DNA sequencing; RsaI and KpnI digestion because the C->G mutation creates new restriction sites
HEMATOLOGY IN HETEROZYGOTE(S)		From Ref. 2 (n=8): Hb 11.5±1.55; MCV 70.7±5.8 fl; MCH 20.4±1.3 pg; Hb A2 4.9±0.5%; Hb F 1.3±0.9%
HEMATOLOGY IN HOMOZYGOTE(S)		Severe thalassemia major; transfusion-dependent
OCCURRENCE		Mediterranean countries; see Tables III, IV, V, VI, VII, VIII, IX, and X
HAPLOTYPE		VII [+ O - - - - - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb S
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With several alleles
OTHER INFORMATION		None

REFERENCES
1.		Orkin, S.H., Kazazian, H.H., Jr., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., and Giardina, P.J.V.: Nature, 296:627, 1982.
2.		Öner, R., Altay, Ç., Aksoy, M., Kilinç, Y., Stoming, T.A., Reese, A.L., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 14:1, 1990.

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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.