MUTATION		Codon 59 (-A); AAG(Lys)->-AG
AMINO ACID REPLACEMENT		None
TYPE OF DELTA-THAL		delta°
MECHANISM		Frameshift with premature termination of translation at codon 60; occurred in cis to the beta-Knossos mutation (codon 27 of the beta gene, G->T)
IDENTIFICATION		DNA amplification and gene mapping
% HB A2 IN HETEROZYGOTE(S)		Hb A2 was quantitated by a standard method (presumably elution from cellulose acetate strips); heterozygotes not observed; those with Hb Knossos had normal levels (1.8-2.4%); those with a Hb Knossos-beta-thal compound heterozygosity also had normal levels of 2.0-2.6%
% HB A2 IN HOMOZYGOTE(S)		The homozygote, who was also homozygous for the Hb Knossos mutation, had zero Hb A2
OCCURRENCE		In an Egyptian family
HAPLOTYPE		Type I [+ - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		None
OTHER INFORMATION		None

REFERENCES
1.		Olds, J.R., Sura, T., Jackson, B., Wonke, B., Hoffbrand, A.V., and Thein, S.L.: Br. J. Haematol., 78: 430, 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.