Codons.40-41.(+T),.AGG.TTC(Arg-Phe)-@AGG.html


MUTATION		Codons 40/41 (+T); AGG·TTC(Arg-Phe)->AGG·T·TTC

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift leads to a terminating codon at codon 43 ending translation
IDENTIFICATION		Amplification of the beta-globin gene; automated sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 10.7 g/dl; MCV 72.4 fl; MCH 23.4 pg; Hb A₂ 4.8%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Chinese family from Taiwan
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
OTHER INFORMATION		None


REFERENCES
1.		Ko, T-M., Tseng, L-H., Hsu, P-M., Guu, I-J., Lin, Y.W., Li, S-F., Lee-T-Y., and Chuang, S-M.: Hemoglobin, 21:131, 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.