MUTATION -92 (C->T) 
  -90  -85 
   |    |  
CCACACCCT->
CTACACCCT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+ (mild)
MECHANISM A limited inhibitory effect on the transcription of the beta-globin gene
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes (ASO)
HEMATOLOGY IN HETEROZYGOTE(S) Hb 11.9-15.7 g/dl; MCV 76.9-85.6 fl; MCH 25.4-30.4 pg; Hb A2 3.4-4.2%; Hb F <1.0%; alpha/beta 1.2-1.5
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In Italian families
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) With Hb S: Hb 14.6 g/dl; MCV 83 fl; MCH 27 pg; Hb A2 4.6%; Hb F 1.4%; Hb A 44.8%; Hb S 49.2%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Some compound heterozygotes: -92(C->T)/codon 39 (C->T); -92(C->T)/IVS-II-745(C->G); thalassemia intermedia
OTHER INFORMATION None
       
REFERENCES
1. Kazazian, H.H., Jr.: Semin. Hematol., 27:209, 1990.
2. Divoky, V., Baysal, E., Schiliro, G., Dibenedetto, S.P., and Huisman, T.H.J.: Am. J. Hematol., 42:225, 1993.
3. Rosatelli, M.C., Faà, V., Meloni, A., Fiorenza, F., Galanello, R., Gasperini, D., Amendola, G., and Cao, A.: Br. J. Haematol., 90:483, 1995.

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.