MUTATION Codons 8/9 (+G); AAG·TCT(Lys;Ser)->AAG·G·TCT
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM This frameshift results in termination of translation at codon 22 (TGA)
IDENTIFICATION Cloning of the beta-globin gene; amplification of the beta-globin gene; DNA sequencing; hybridization with allele specific oligonucleotides; ASO
HEMATOLOGY IN HETEROZYGOTE(S) Hb 11.2 g/dl; MCV 64 fl; MCH 20.5 pg; Hb A2 5.9%; Hb F <1%
HEMATOLOGY IN HOMOZYGOTE(S) None known
OCCURRENCE Asian Indians; see Tables V, IX, and XI
HAPLOTYPE [+ O - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) With Hb Hofu [beta126(H4)Val->Glu] (Ref. 2) resulting in a mild thalassemia intermedia (Hb 9.4 g/dl; MCV 66 fl; MCH 20 pg; Hb A2 6.2%; Hb F 1.8%)
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
NOTE The mutation described by Aulehla-Scholz et al (Hum. Genet., 84:195, 1990) as a frameshift at codons 9/10 (+G) likely was misinterpreted, and is the same as that described above [codons 8/9 (+G)].
       
REFERENCES
1. Kazazian, H.H., Jr., Orkin, S.H., Antonarakis, S.E., Sexton, J.P., Boehm, C.D., Goff, S.C., and Waber, P.G.: The EMBO J., 3:593, 1984.
2. Pande, P.L., Prakash, S., Tiwary, R.S., Kazanetz, E.G., Leonova, J.Ye., and Huisman, T.H.J.: Hemoglobin, 19:301, 1995.


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.