MUTATION		Initiation codon (two nts in 5' deleted);
		CCACCATGG->CC- -CATGG occurs on an alpha-thal-2 hybrid gene -alpha(-3.7-II)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		Mild alpha-thal-1 [-alpha(T)/alphaalpha]
MECHANISM		There is a decreased efficiency of translation of this alpha-thal mRNA due to the deletion of the two nts preceding the initiation codon
IDENTIFICATION		Gene mapping; cloning; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not provided
HEMATOLOGY IN HOMOZYGOTE(S)		Not provided
OCCURRENCE		In some North African and Mediterranean families
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The original study (Ref. 1) reports on three persons homozygous for this frameshift; Hb G-Philadelphia is also present [alpha68(E17)Asn->Lys]
		Subject I: homozygous for -alpha(T) and for Hb G-Phil; -alpha(T;G)/-alpha(T;G)
		Subject II: homozygous for -alpha(T) and heterozygous for Hb G-Phil; -alpha(T)/-alpha(T;G);
		Subject III: homozygous for -alpha(T) only; -alpha(T)/-alpha(T); only subject III produces Hb H
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Morlé, F., Lopez, B., Henni, T., and Godet, J.: EMBO J., 4:1245, 1985.
2.		Morle, F., Starck, J., and Godet, J.: Nucleic Acids Res., 14:3279, 1986.

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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.