MUTATION -90 (C->T) 
  -90  -85 
   |    |  
CCACACCCT->
CCATACCCT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM This mutation probably decreases transcription of the beta-globin gene because it may affect binding of transcriptional factors
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Not given
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE Found in a Portuguese family
HAPLOTYPE VI
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION None
       
REFERENCES
1. Faustino, P., Osório-Almeida, L., Espírito-Santo, D., Gonçalves, J., Romão, L., Carmo Martins, M., Maia Marques, M., and Lavinha, J.: Hum. Genet., 89:573, 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.