Codon.30.(AGG-@ACG).html


MUTATION		Codon 30 (AGG->ACG)

AMINO ACID REPLACEMENT		Arg->Thr
TYPE OF DELTA-THAL		delta°
MECHANISM		Abolishes splicing at the 5' site of IVS-I
IDENTIFICATION		Not defined; presumably amplification of the delta-globin gene; sequencing
% HB A₂ IN HETEROZYGOTE(S)		Not reported; mutation was found in one (or more) beta-thal heterozygote(s) with normal Hb A₂ level (method of Hb A₂ quantitation not given)
% HB A₂ IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In Italian family(ies)
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.		Pirastu, M., Ristaldi, M.S., Loudianos, G., Murru, S., Sciarratta, G.V., Parodi, M.I., Leone, D., Agosti, S., and Cao, A.: Ann. N.Y. Acad. Sci., 612:90, 1990.

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.