MUTATION		Codon 31 (-C); CTG->-TG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Frameshift with a new terminating codon at codon 60 (TGA) ending translation
IDENTIFICATION		Amplification of the beta-globin gene; automatic sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.3 g/dl; MCV 62.9 fl; MCH 19.7 pg; Hb A2 6.3%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Chinese family from Taiwan
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
OTHER INFORMATION		None

REFERENCES
1.		Ko, T-M., Tseng, L-H., Hsu, P-M., Guu, I-J., Lin, Y-W., Li, S-F., Lee, T-Y., and Chuang, S-M.: Hemoglobin, 21:131, 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.