MUTATION		IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Change in the consensus acceptor sequence (AG->AC) prevents splicing
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; cloning
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 14.5 g/dl; MCV 62.6 fl; MCH 20.6 pg; reticulocytes 1.6%; Hb F 1.6%; Hb A2 4.9%; beta/alpha ratio 0.45; subject has a brother with a similar condition (beta/alpha ratio 0.30)
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in a 61-year-old Japanese male
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Yamamoto, Ku., Yamamoto, Ki., Hattori, Y., Yamashiro, Y., Hoshitani, M., Morishita, M., Ohba, Y., Katahira, H., Karasawa, M., Omine, M., Narukiyo, T., Hirabayashi, K., and Miyawaki, S.: Hemoglobin, 16:295, 1992.

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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.