MUTATION		Initiation codon ATG->AGG
AMINO ACID REPLACEMENT		Met->Arg
TYPE OF BETA-THAL		beta°
MECHANISM		Defective mRNA translation; no beta chain is synthesized; initiation of translation likely changed to codons 21-22; 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 9.6-12.9 g/dl; MCV 49.0-76.0 fl; MCH 15.2-23.8 p; Hb A2 3.9-6.3%; Hb F 2.2-21.7%
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Chinese family; in a large Korean family; as a de novo mutation in a Northern European child
HAPLOTYPE		[- + + - + + - - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The original patient was a compound heterozygote [with codons 41/42 (-TCTT)]
OTHER INFORMATION		None

REFERENCES
1.		Lam, V.M.S., Xie, S.S., Tam, J.W.O., Woo, Y.K., Gu, Y.L., and Li, A.M.C.: Blood, 75:1207, 1990.
2.		Koo, M.S., Kim, S.I., Cho, H.I., Hattori, Y., Yamashiro, Y., Hoshitani, M., Ohba, Y., Miyaji, T., Yamamoto, Ku., and Yamamoto, Ki.: Hemoglobin, 16:313, 1992.
3.		Waye, J.S., Eng, B., Patterson, M., Barr, R.D., and Chui, D.H.K.: Am. J. Hematol., in press, 1997.

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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.