MUTATION 3'UTR (-GCATCTGGATTCT) 13 bp deletion between positions +1565 to +1577 (the numbers are relative to the Cap site)
Positions  1560  1565  1570  1575  1580  1585  1590
| | | | | | |
CTTGA GCATC TGGAT TCTGC CTAAT AAAAA A
deleted poly A site
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta° (perhaps beta+)
MECHANISM The loss of 13 bp may render the mRNA unstable
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; ASO hybridization; heteroduplex formation; HinfI digestion because this restriction site is lost
HEMATOLOGY IN HETEROZYGOTE(S) The mother is a heterozygote; no data reported
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In a Turkish patient
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The patient is a compound heterozygote for this deletion and the IVS-II-745 (C->G) mutation; severely affected and transfusion-dependent
OTHER INFORMATION None
       
REFERENCES
1. Basak, A.N., Özer, A., Kirdar, B., and Akar, N.: Hemoglobin, 17:551, 1993.


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.