MUTATION -87 (C->G) 
  -90  -85 
   |    |  
CCACACCCT->
CCACACGCT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM Decreased transcription of the beta-globin gene because of decreased binding by transcription factors (SpI and EKLF)
IDENTIFICATION Cloning and amplification of the beta-globin gene; DNA sequencing; ASO
HEMATOLOGY IN HETEROZYGOTE(S) Mild beta-thal trait
HEMATOLOGY IN HOMOZYGOTE(S) Patient, aged 62 years (F) with thalassemia intermedia (Ref. 3); Hb 9.4 g/dl; MCV 60 fl; MCH 20 pg; Hb A2 5%; Hb F 65%; Hb A 30%; reticulocytes 3.5%; normal physical development; alpha/non-alpha ratio 0.39
OCCURRENCE In some Mediterranean families (Italy; Turkey)
HAPLOTYPE VII; VIII
FOUND IN COMBINATION WITH ABNORMAL HB(S) None reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) With different beta-thal alleles
OTHER INFORMATION None
       
REFERENCES
1. Treisman, R., Orkin, S.H., and Maniatis, T.: Nature, 302:591, 1983.
2. Diaz-Chico, J.C., Yang, K.G., Stoming, T.A., Efremov, D.G., Kutlar, A., Kutlar, F., Aksoy, M., Altay, C., Gurgey, A., Kilinç, Y., and Huisman, T.H.J.: Blood, 71:248, 1988.
3. Camaschella, C., Alfarano, A., Gottardi, E., Serra, A., Revello, D., and Saglio, G.: Br. J. Haematol., 75:132, 1990.
4. Gilman, J.G., Manca, L., Frogheri, L., Pistidda, P., Guiso, L., Longinotti, M., and Masala, B.: Am. J. Hematol., 45:265, 1994.
5. Ristaldi, M.S., Cao, A., and Casula, S.: Blood, 86:2055, 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.