MUTATION -30 (T->C) 
 -30  -25 
  |    |  
CATAAAAG->
CACAAAAG
AMINO ACID REPLACEMENT None known
TYPE OF BETA-THAL ?
MECHANISM Not reported; probably decreased transcription of the beta-globin gene due to reduced 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) The father was a heterozygote; no additional data reported
HEMATOLOGY IN HOMOZYGOTE(S) Not observed
OCCURRENCE In a Chinese family
HAPLOTYPE Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The proband was a compound heterozygote for this mutation and IVS-II-654 (C->T)
OTHER INFORMATION None
       
REFERENCES
1. Cai, S-P., Zhang, J-Z., Doherty, M., and Kan, Y.W.: Am. J. Hum. Genet., 45:112, 1989.

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.