MUTATION -87 (C->T) 
  -90  -85 
   |    |  
CCACACCCT->
CCACACTCT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM Decrease in beta-globin gene transcription because of decreased binding of transcriptional factors
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Mother is a heterozygote; Hb A2 5.5%; minimal anemia; slightly changed red cell indices
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In a German-Italian patient
HAPLOTYPE I
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Proband is compound heterozygous for the IVS-I-110 (G->A) and the -87 (C->T) mutations; moderate anemia, normal physical development
OTHER INFORMATION In vitro analysis showed a decrease of ~50% in transcriptional activity
       
REFERENCES
1. Kulozik, A.E., Bellan-Koch, A., Bail, S., Kohne, E., and Kleihauer, E.: Blood, 77:2054, 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.