MUTATION		Codon 27 (GCC->TCC)
AMINO ACID REPLACEMENT		Ala->Ser; Hb A2-Yialousa
TYPE OF DELTA-THAL		delta+
MECHANISM		Activation of a cryptic splice site
IDENTIFICATION		Amplification and cloning; DNA sequencing
% HB A2 IN HETEROZYGOTE(S)		Hb A2 quantitated by "standard procedure" (not defined); 1.5-2.0% in seven heterozygotes
% HB A2 IN HOMOZYGOTE(S)		Hb A2 0.6% in one homozygote and 0.44% in a Sardinian homozygote
OCCURRENCE		In Sardinian and Greek families
HAPLOTYPE		[- + + + + + + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		None; with beta-thal codon 39 (C->T): Hb A2 2.8-3.8%
OTHER INFORMATION		None

REFERENCES
1.		Moi, P., Paglietti, E., Sanna, A., Brancati, C., Tagarelli, A., Galanello, R., Cao, A., and Pirastu, M.: Blood, 72:530, 1988.
2.		Trifillis, P., Kyrri, A., Kalogirou, E., Kokkofitou, A., Ioannou, P., Schwartz, E., and Surrey, S.: Blood, 82: 1647, 1993.
3.		Loudianos, G., Cao, A., Ristaldi, M.S., Pirastu, M., Tzeti, M., Kannavakis, E., and Kattamis, C.: Blood, 75:526, 1990.
4.		Oggiano, L., Guiso, L., Frogheri, L., Loudianos, G., Pistidda, P., Rimini, E., Pirastu, M., Cao, A., and Longinotti, M.: Am. J. Hematol., 45:81, 1994.

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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.