MUTATION IVS-II-837 (T->G);
   G 840       850  
^ | |
TTATCTTCCTCCCACAG^CT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+ or beta°
MECHANISM The T->G mutation creates a new splicing site which may be preferentially utilized
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; confirmation with amplification using an allele specific primer
HEMATOLOGY IN HETEROZYGOTE(S) No data provided
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE Asian Indians
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION None
       
REFERENCES
1. Varawalla, N.Y., Old, J.M., and Weatherall, D.J.: Br. J. Haematol., 79:640, 1991.


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.