MUTATION		AATAAA->AATA-- of the alpha2 gene (poly A signal)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		This mutation in the poly A signal results in an extended transcript with a new signal 1046 bp 3' to the terminating codon; nonfunctional mRNA
IDENTIFICATION		Single stranded confirmation analysis; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.0-12.3 g/dl; MCV 71-74 fl; MCH 24 pg; Hb A2 2.4-2.6%; alpha/beta ratio 0.64-0.72
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In an Indian 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.		Harteveld, C.L., Losekoot, M., Haak, H., Heister, J.G.A.M., Giordano, P.C., and Bernini, L.F.: Br. J. Haematol., 87:139, 1994.

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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.