MUTATION Codons 128/129 (-4 bp, -GCTG; +5 bp, +CCACA)
Codons 132-135 (-11 bp, -AAAGTGGTGGC)
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL Dominant inclusion body beta-thal trait
MECHANISM This complex rearrangement results in the synthesis of a betaX chain with 153 residues which is unstable and catabolized, resulting in this TYPE OF BETA-THAL
IDENTIFICATION Cloning of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Moderate anemia with splenomegaly; levels of Hb F and Hb A2 are increased; decreased beta/alpha chain synthesis ratio; some subjects were splenectomized
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In an Irish family; eight affected members
HAPLOTYPE [+ - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION No abnormal beta chain could be isolated
       
REFERENCES
1. Weatherall, D.J., Clegg, J.B., Knox-Macaulay, H.H., Bunch, C., Hopkins, C.R., and Temperley, I.G.: Br. J. Haematol., 24:681, 1973.
2. Thein, S.L., Hesketh, C., Taylor, P., Temperley, I.J., Hutchinson, R.M., Old, J.M., Wood, W.G., Clegg, J.B., and Weatherall, D.J.: Proc. Natl. Acad. Sci. USA, 87:3924, 1990.


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.