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.


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.