Codons.8-9.(+G),.AAG.TCT(Lys,Ser)-@AAG.G.html


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.