MUTATION		Poly A (A->G); AATAAA->AATAGA
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; dot-blot analysis with mutation specific probes
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a family from Malaysia
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The proband had Hb E-beta+-thal: Hb 9.5 g/dl; MCV 59 fl; MCH 18.6 pg; Hb E 46.5%; Hb A2 4.3%; Hb F 7.6%; Hb A 41.6%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None reported
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.

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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.