MUTATION		IVS-I-5 (G->A) plus the 7,201 bp deletion involving part of the delta gene; the Corfu deletion (deltabeta-thal)
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta+
MECHANISM		The Corfu deletion eliminates the delta-mRNA
IDENTIFICATION		Cloning; amplification; sequencing; gene mapping; dot-blot analysis with mutation specific probes
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.2 g/dl; MCV 70.7 fl; MCH 22.0 pg; Hb A2 2.7%; Hb F 1.5%; non-alpha/alpha in vitro ratio 0.87 (n=9)
HEMATOLOGY IN HOMOZYGOTE(S)		Two are reported; Hb 9.3 g/dl; MCV 63 fl; MCH 20 pg; Hb A 5%; Hb A2 0%; Hb F 95%; non-alpha/alpha in vitro ratio 0.17; transfusions are often required
OCCURRENCE		In Greek families
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With some Mediterranean beta-thal alleles
OTHER INFORMATION		The Corfu deletion also occurs on a chromosome without the IVS-I-5 (G->A) mutation; see page 183 for information about delta-thal due to this anomaly

REFERENCES
1.		Wainscoat, J.S., Thein, S.L., Wood, W.G., and Weatherall, D.J.: Ann. NY. Acad. Sci., 445:20, 1985.
2.		Kulozik, A.E., Yarwood, N., and Jones, R.W.: Blood, 71:457, 1988.
3.		Traeger-Synodinos, J., Tzetis, M., Kanavakis, E., Metaxotou-Mavromati, A., and Kattamis, C.: Br. J. Haematol., 79:302, 1991.

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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.