MUTATION		Initiation codon (T->C); ATG->ACG of the alpha2 gene
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		This mutation abolishes the function of this gene
IDENTIFICATION		Gene mapping; cloning; sequencing; the mutation can be detected by restriction enzyme analysis with NcoI
HEMATOLOGY IN HETEROZYGOTE(S)		Not provided
HEMATOLOGY IN HOMOZYGOTE(S)		Not provided
OCCURRENCE		In Mediterranean populations
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION		With an alpha-thal-1 (- -/) in several patients with Hb H disease [alpha(T)alpha/- -]
OTHER INFORMATION		None

REFERENCES
1.		Pirastu, M., Saglio, G., Chang, J.C., Cao, A., and Kan, Y.W.: J. Biol. Chem., 259:12315, 1984.

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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.