MUTATION		Codons 89/90 (-GT); AGT·GAG(Ser·Glu)->A--·GAG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The deletion of GT from codons 89 and 90 results in a premature termination of translation because the new codon 93 is a stop codon (TGA)
IDENTIFICATION		Not reported
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in a Korean beta-thal heterozygote
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., and Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191 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.