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.