MUTATION -88 (C->A) 
  -90  -85 
   |    |  
CCACACCCT->
CCACAACCT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM This mutation decreases the transcription of the beta-globin gene because of decreased binding of transcriptional factors
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes (ASO)
HEMATOLOGY IN HETEROZYGOTE(S) Not reported
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE Found in one Kurdish Jewish patient from Western Iran
HAPLOTYPE IX
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Rund, D., Cohen, T., Filon, D., Dowling, C.E., Warren, T.C., Barak, I., Rachmilewitz, E., Kazazian, H.H., Jr., and Oppenheim, A.: Proc. Natl. Acad. Sci. USA, 88:310, 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.