Codon.43.(G-@T),.GAG(Glu)-@TAG.(stop.cod.html


MUTATION		Codon 43 (G->T); GAG(Glu)->TAG (stop codon)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This G->T change results in a nonsense mutation at this codon terminating translation
IDENTIFICATION		Cloning of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.2 g/dl; MCV 67.5 fl; MCH 21.6 pg; Hb A₂ 6.5%; Hb F 2.4%; beta/alpha ratio 0.57
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Chinese family
HAPLOTYPE		Chinese type 2
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband was a compound heterozygote for this beta°-thal and a nondeletional type of deltabeta-thal (Ref. 2): Hb 6.8 g/dl; MCV 70.7 fl; MCH 22.3 pg; Hb A₂ 3.6%; Hb F 81.4%; Hb A 15.0%
OTHER INFORMATION		None


REFERENCES
1.		Atweh, G.F., Zhu, D-E., Forget, B.G.: Blood 68:1108, 1986.
2.		Atweh, G.F., Brickner, H.E., Zhu, X-X., Kazazian, H.H., Jr., and Forget, B.G.: J. Clin. Invest., 82:557, 1988.

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.