MUTATION -86 (C->A) 
  -90  -85 
   |    |  
CCACACCCT->
CCACACCAT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM This mutation decreases transcription of the beta-globin gene because of decreased binding by transcriptional factors
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with mutation specific probes (ASO)
HEMATOLOGY IN HETEROZYGOTE(S) MCV 77 fl; Hb A2 3.7%; Hb F 1.3%
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In an Italian family
HAPLOTYPE I
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The proband was a compound heterozygote (thalassemia intermedia) -87(C->A)/codon 39(C->T); Hb 8.2 g/dl; MCV 74 fl; Hb F 43%; Hb A2 7.0%
OTHER INFORMATION None
       
REFERENCES
1. Meloni, A., Rosatelli, M.C., Faà, V., Sardu, R., Saba, L., Murru, S., Sciarratta, G.V., Baldi, M., Tannoia, N., Vitucci, A., and Cao, A.: Br. J. Haematol., 80:222, 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.