MUTATION		-7.2 kb; the Corfu deletion
AMINO ACID REPLACEMENT		None
TYPE OF DELTA-THAL		delta°
MECHANISM		No delta-mRNA formation
IDENTIFICATION		Gene mapping; DNA amplification; DNA sequencing; allele specific probes
% HB A2 IN HETEROZYGOTE(S)		Not reported
% HB A2 IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In Italian and Greek families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		The proband in one family (Ref. 1) also had a beta-thal trait (codon 39, C->T; Hb A2 2.1%); the father in the second family (Ref. 2) had the same combination (Hb A2 2.2%); pedigree studies confirmed that in both subjects the Corfu deletion is in trans to the beta-39 (C->T) mutation
OTHER INFORMATION		This deletion starts in the psibeta-delta intergenic region and ends in the IVS-II of the delta-globin gene; no additional mutation was observed

REFERENCES
1.		Galanello, R., Melis, M.A., Podda, A., Monne, M., Perseu, L., Loudianos, G., Cao, A., Pirastu, M., and Piga, A.: Blood, 75:1747, 1990.
2.		Ribeiro, M.L.S., Gu, L-H., Buchanan-Adair, I., and Huisman, T.H.J.: Am. J. Hum. Genet., 52:842, 1993.

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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.