MUTATION Codon 125 (-A); CCA(Pro)->CC-
 
AMINO ACID REPLACEMENT Extended beta chain
TYPE OF BETA-THAL Dominant inclusion body beta-thal trait
MECHANISM The loss of A from codon 125 results in a frameshift with a stop codon at codon 157; this extended betaX chain (156 amino acids) is unstable and rapidly catabolized
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) The proband was considered for a bone marrow transplant assuming a diagnosis of beta-thal major
HEMATOLOGY IN HOMOZYGOTE(S) Not observed
OCCURRENCE In four patients of a Japanese family
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191, 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.