Codon.41.(-C),.TTC(Phe)-@TT-.html


MUTATION		Codon 41 (-C); TTC(Phe)->TT-

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift results in a stop codon at codon 60 terminating translation
IDENTIFICATION		Amplification of the beta-globin gene; cloning of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a compound heterozygous Thai patient from Southern Thailand
HAPLOTYPE		[+ O - - - + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With the beta-Malay mutation (codon 19, AAC->AGC): Hb 2.4 g/dl (!); MCV 72 fl; MCH 24.5 pg; Hb Malay, Hb F, and Hb A₂ (2.6%) were present; ~10 nRBC/100 WBC were observed in peripheral blood
OTHER INFORMATION		None


REFERENCES
1.		Fucharoen, S., Fucharoen, G., Laosombat, V., and Fukumaki, Y.: Am. J. Hematol., 38:142, 1991.

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.