Codon.35.(-C),.TAC(Tyr)-@TA-.html


MUTATION		Codon 35 (-C); TAC(Tyr)->TA-

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This loss of C in codon 35 creates a frameshift with a nonsense codon at codon 60 (TGA) terminating translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		No data
HEMATOLOGY IN HOMOZYGOTE(S)		None observed
OCCURRENCE		In a few Malay families
HAPLOTYPE		#6 [+ - - - - - + + -]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The allele was observed in two patients with Hb E-beta°-thal: Hb 7.1, 8.6 g/dl; MCV 80, 81 fl; MCH 22.0, 21.7 pg; Hb A₂ 4.4, 6.2% (determined as delta by reversed phase HPLC); Hb F 48.7, 46.9%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None


REFERENCES
1.		Yang, K.G., Kutlar, F., George, E., Wilson, J.B., Kutlar, A., Stoming, T.A., Gonzalez-Redondo, J.M., and Huisman, T.H.J.: Br. J. Haematol., 72:73, 1989.

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.