Poly.A.+69.(G-@A).html


MUTATION		Poly A +69 (G->A)

AMINO ACID REPLACEMENT		None
TYPE OF DELTA-THAL		?
MECHANISM		Possible changes in the binding of erythoid-specific binding protein(s)
IDENTIFICATION		Amplification of the delta-globin gene; DNA sequencing
% HB A₂ IN HETEROZYGOTE(S)		The mutation was found on a chromosome which also carries the betaIVS-II-745 (C->G) change; heterozygotes for this beta-thal allele have normal levels of Hb A₂
% HB A₂ IN HOMOZYGOTE(S)		None
OCCURRENCE		In a North Sardinian family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		None
OTHER INFORMATION		There is the possibility that this G->A change is a silent polymorphism which would leave the low level of Hb A₂ in these beta-thal heterozygotes unexplained


REFERENCES
1.		Moi, P., Loudianos, G., Lavinha, J., Murru, S., Cossu, P., Casu, R., Oggiano, L., Longinotti, M., Cao, A., and Pirastu, M.: Blood, 79:512, 1992.

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.