5'UTR,.+10.(-T).html


MUTATION		5'UTR; +10 (-T)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta⁺ (silent)
MECHANISM		A reduced level of beta-mRNA was detected
IDENTIFICATION		Amplification of the beta-globin gene; automated fluorescent DNA sequencing; dot-blot analysis with allele specific probes (ASO)
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 14.5-15.0 g/dl; MCV 94-102 fl; MCH 30.6-33.3 pg; Hb A₂ 2.5-2.7%; Hb F <1%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Greek family
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband (F-73 years) was a compound heterozygote for this mutation and codon 39 (C->T); Hb 9.0 g/dl; MCV 83 fl; MCH 27 pg; Hb A₂ 4.8%; Hb F 5.8%; beta/alpha ratio 0.27; splenectomized; thalassemia intermedia
OTHER INFORMATION		None


REFERENCES
1.		Athanassiadou, A., Papachatzopoulou, A., Zoumbos, N., Maniatis, G.M., and Gibbs, R.: Br. J. Haematol., 88:307, 1994.

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.