Codons.9-10.(+T),.TCT.GCC(Ser,Ala)-@TCT..html


MUTATION		Codons 9/10 (+T); TCT·GCC(Ser;Ala)->TCT·T·GCC

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift results in termination of translation at codon 22 (TGA)
IDENTIFICATION		Sequencing of amplified DNA; dot-blot hybridization of the PCR product with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 14.0 g/dl; MCV 65.7 fl; Hb A₂ 5.8%; Hb F 1%
HEMATOLOGY IN HOMOZYGOTE(S)		None known
OCCURRENCE		In one Greek family
HAPLOTYPE		Unknown
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None known
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With IVS-I-110 (G->A) gives severe anemia (Hb 7.5 g/dl; MCV ~62 fl; Hb A₂ 3.1%; Hb F 85%)
OTHER INFORMATION		None


REFERENCES
1.		Waye, J.S., Eng, B., Olivieri, N.F., and Chui, D.H.K.: Prenatal Diagn., 14:929, 1994.

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.