MUTATION IVS-II-897, A->G; AG^CT->GGCT
 
AMINO ACID REPLACEMENT None
TYPE OF DELTA-THAL delta°
MECHANISM Splicing of mRNA is prevented; no normal translation
IDENTIFICATION Amplification of the delta-globin gene; DNA sequencing
% HB A2 IN HETEROZYGOTE(S) Hb A2 was quantitated by a "standard method" (not defined); heterozygotes have a Hb A2 value of 1.2%
% HB A2 IN HOMOZYGOTE(S) None
OCCURRENCE In a Greek Cypriot family
HAPLOTYPE [- + - - + + + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S) None
OTHER INFORMATION None
       
REFERENCES
1. Trifillis, P., Ioannou, P., Schwartz, E., and Surrey, S.: Blood, 78:3298, 1991.


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.