MUTATION		Codons 71/72 (+T); TTT·AGT(Phe·Ser)->TTT·T·AGT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The introduction of a T between codons 71 and 72 changes the reading frame and terminates translation at the new codon 72 (TAG)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; hybridization of the amplified DNA with mutation specific probes
HEMATOLOGY IN HETEROZYGOTE(S)		The father is heterozygous for this mutation
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Chinese family from Guangdong Province, P.R. China
HAPLOTYPE		None
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband is a 9-year-old compound heterozygote for IVS-II-654 (C->T) and codons 71/72 (+T); transfusion-dependent since the age of 7 months
OTHER INFORMATION		None

REFERENCES
1.		Chan, V., Chan, T.K., and Todd, D.: Blood, 73:2304, 1989.

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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.