IVS-I-2.(T-@C).html


MUTATION		IVS-I-2 (T->C)

AMINO ACID REPLACEMENT		None
TYPE OF DELTA-THAL		delta°
MECHANISM		Abolishes splicing at the 5' end of IVS-I
IDENTIFICATION		Gene cloning; DNA sequencing
% HB A₂ IN HETEROZYGOTE(S)		Method of Hb A₂ quantitation not specified; 1.6% in the heterozygote; two children with this mutation and a (deltabeta)°-thal (Sicilian type?) had no detectable Hb A₂
% HB A₂ IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a South Italian family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		None
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.

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.