MUTATION		Initiation codon ATG->ACG
AMINO ACID REPLACEMENT		Met->Thr
TYPE OF BETA-THAL		beta°
MECHANISM		Defective mRNA translation; no beta chain is synthesized; initiation of translation likely changed to codons 21-22 with termination at codons 60-61 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; NcoI digestion (restriction site is lost); ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 10.0-11.6 g/dl; MCV 54.1-57.6 fl; MCH 17.8-18.9 pg; reticulocytes 2.2-3.8%; Hb A2 5.9-6.2%; Hb F 0.6-0.9%; beta/alpha ratio 0.53-0.65
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Yugoslavian 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.		Jankovic, L., Efremov, G.D., Josifovska, O., Juricic, D., Stoming, T.A., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 14:169, 1990.

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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.