MUTATION Poly A (A->G); AATAAA->AATGAA
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM Inefficient cleavage and polyadenylation of mRNA at the normal poly A site
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Hb 10.7-14.3 g/dl; MCV 71-78 fl; MCH 22-23 pg; Hb A2 3.8, 3.9, 4.1%; Hb F 1.0%
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE Present in a Greek family and some Yugoslavian and Bulgarian families
HAPLOTYPE Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION None
       
REFERENCES
1. Jankovic, L., Efremov, G.D., Petkov, G., Kattamis, C., George, E., Yang, K-G., Stoming, T.A., and Huisman, T.H.J.: Br. J. Haematol., 75:122, 1990.


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.