MUTATION		Codon 1 (-G); GTG(Val)->-TG
AMINO ACID REPLACEMENT		None observed
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift results in the termination of translation at codon 3 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not presented
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		Found in a few Italian families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None

REFERENCES
1.		Rosatelli, M.C., Dozy, A., Faà, V., Meloni, A., Sardu, R., Saba, L., Kan, Y.W., and Cao, A.: Am. J. Hum. Genet., 50:422, 1992.

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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.