Codons.42-43.(+T).TTT.GAG(Phe.Glu)-@TTT..html


MUTATION		Codons 42/43 (+T) TTT·GAG(Phe·Glu)->TTT·TGA·G(Phe;stop codon)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The introduction of T changes codon 43 into a nonsense codon (TGA) terminating translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; cDNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.8 g/dl; MCV 65.4 fl; MCH 19.8 pg; reticulocytes 1.4%; Hb A₂ 7.9%; Hb F 3.1%; target cells; anisocytosis beta/alpha ratio 0.5
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Japanese family
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None reported
OTHER INFORMATION		None


REFERENCES
1.		Oshima, K., Harano, K., and Harano, T.: Am. J. Hematol., 52:39, 1996.

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.