MUTATION		Poly A (T->C); AATAAA->AACAAA
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta+
MECHANISM		Inefficient cleavage and polyadenylation at the normal poly A site
IDENTIFICATION		Cloning of the beta-globin gene; DNA sequencing; amplification; dot-blot analysis with allele specific probes
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 8.9-15.0 g/dl; MCV 65-74 fl; MCH 20.4-24.3 pg; Hb A2 3.6-3.7%; Hb F <1%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a few Black and Turkish families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Found in combination with the IVS-II-1 (G->A) mutation: Hb 6.2-8.3 g/dl; MCV 69-73 fl; MCH 23.3-28.0 pg; Hb A2 2.6-3.6%; Hb F 36-48%
OTHER INFORMATION		A novel beta-mRNA was detected in erythroid RNA which was ~1500 nts longer

REFERENCES
1.		Orkin, S.H., Cheng, T-C., Antonarakis, S.E., and Kazazian, H.H., Jr.: The EMBO J., 4:453, 1985.
2.		Altay, Ç., Gurgey, A., Öner, R., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 15:327, 1991.

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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.