Codon.26.(+T),.GAG(Glu)-@GTAG.html


MUTATION		Codon 26 (+T); GAG(Glu)->GTAG

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Frameshift with a stop codon at codon 43 (TGA) terminating translation
IDENTIFICATION		Amplification of DNA involving the beta-globin gene; sequencing; ARMS; PCR-SSCP; PSCP
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 13.8 g/dl; MCV 65.6 fl; MCH 21.2 pg; Hb A₂ 6%; Hb F 0.9%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Japanese family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
OTHER INFORMATION		No abnormal protein was detected; instability test was negative; no Heinz bodies were observed


REFERENCES
1.		Hattori, Y., Okayama, N., Ohba, Y., Yamashiro, Y., Yamamoto, Ku., Yamamoto, Ki., Koyama, S.,and Sawada, U.: Hemoglobin, in press, 1997.

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.