Codon.26.(G-@T),.GAG(Glu)-@TAG(stop.codo.html


MUTATION		Codon 26 (G->T); GAG(Glu)->TAG(stop codon)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This G->T mutation changes codon 26 into a stop codon and terminates translation
IDENTIFICATION		Amplification of the beta-globin gene; sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Thai family
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Found in a Hb E-beta°-thal compound heterozygote: Hb 9.6 g/dl; MCV 68.7 fl; MCH 22.3 pg; Hb E (+A₂) 24.4%; Hb F 15.7% (the patient is transfusion-dependent)
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported


REFERENCES
1.		Fucharoen, G., Fucharoen, S., Jetsrisuparb, A., and Fukumaki, Y.: Biochem. Biophys. Res. Commun., 170:698, 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.