MUTATION T->C; 12 nts 5' to the poly A site or +1570 (the number is relative to the Cap site) 
gcatctggattctgcctAAT AAA
     |                  
     c
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+ (?)
MECHANISM Destabilization of the the beta-globin mRNA
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; BspEI digests (mutation creates a new restriction site)
HEMATOLOGY IN HETEROZYGOTE(S) Four relatives had a heterozygosity for this allele Hb 10.2-13.2 g/dl; MCV 59-64 fl; Hb A2 4.8-6.4%
HEMATOLOGY IN HOMOZYGOTE(S) Not found
OCCURRENCE Found in an Irish family
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The proband (29 years old) is a compound heterozygote for this mutation and the IVS-I-110 (G->A) allele: Hb 10.2 g/dl; MCV 60 fl; Hb A2 5.4%; Hb F 0.9%
OTHER INFORMATION None
       
REFERENCES
1. Cai, S-P., Eng, B., Francombe, W.H., Olivieri, N.F., Kendall, A.G., Waye, J.S., and Chui, D.H.K.: Blood, 79:1342, 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.