MUTATION		Codon 59 (-A); AAG(Lys)->-AG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This deletion of A at codon 59 causes a frameshift with a stop codon at codon 60 (TGA) resulting in a premature termination of translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; digestion with Bsu36I because the frameshift removes a recognition site for this enzyme
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.4 g/dl; MCV 56.3 fl; MCH 18.5 pg; Hb A2 5.1%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In an Italian family
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None

REFERENCES
1.		Meloni, A., Demurtas, M., Moi, L., Faà, V., Cao, A., and Rosatelli, M.C.: Hum. Mutat., 3:309, 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.