MUTATION Codons 36/37 (-T); CCT·TGG(Pro-Trp)->CCT·-GG
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM Frameshift resulting in a change in reading frame with a nonsense codon at codon 60 (TGA) terminating translation
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Not reported
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE Found in three patients (Kurdish Jews) from Western Iran and in a Moslem Iranian patient
HAPLOTYPE I [+ O - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Rund, D., Cohen, T., Filon, D., Dowling, C.E., Warren, T.C., Barak, I., Rachmilewitz, E., Kazazian, H.H., Jr., and Oppenheim, A.: Proc. Natl. Acad. Sci. USA, 88:310, 1991.
2. Kazazian, H.H., Jr.: Semin. Hematol., 27:209, 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.