MUTATION Codon 30 (AGG->AGC) [IVS-I-130 (+1)] 
    30  31      30  31
TTAG^G·CTG->TTAG C·CTG
AMINO ACID REPLACEMENT Arg->Ser
TYPE OF BETA-THAL beta°
MECHANISM Splicing is eliminated
OCCURRENCE In a Middle Eastern family
OTHER INFORMATION No other information is available
       
REFERENCES
1. El-Kalla, S. and Mathews, A.R.: Hemoglobin, 21:237, 1997.

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.