Poly.A.(A-@G),.AATAAA-@AATGAA.html


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.