MUTATION Initiation codon ATG->ATT
 
AMINO ACID REPLACEMENT Met->Ile
TYPE OF BETA-THAL beta°
MECHANISM Defective mRNA translation and no beta chain production; initiation of translation likely changed to codons 21-22, termination at codons 60-61 (TGA)
IDENTIFICATION Not presented
HEMATOLOGY IN HETEROZYGOTE(S) Not presented
HEMATOLOGY IN HOMOZYGOTE(S) Not presented
OCCURRENCE In an Iranian family
OTHER INFORMATION No other information available
       
REFERENCES
1. Nozari, G., Rahbar, S., Golshaiyzan, A., and Rahmandzadeh, S.: Hemoglobin, 19:425, 1995.


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.