IVS-II-654.(C-@T),.AAGGCAATA-@AAG^GTAATA.html


MUTATION		IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta⁺ (severe)
MECHANISM		The C->T mutation creates a new restriction site which is preferentially used
IDENTIFICATION		Cloning or amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9.6-14.1 g/dl; MCV 64.0-70.5 fl; MCH 20.1-21.9 pg; Hb A₂ 3.9-5.8%
HEMATOLOGY IN HOMOZYGOTE(S)		Transfusion-dependent thalassemia major
OCCURRENCE		In Chinese and other East Asian populations (see Tables XII, XIII, and XIV)
HAPLOTYPE		Type I
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb E
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With several alleles [-28 (A->G) and codons 41/42 (-TTCT)]
OTHER INFORMATION		None


REFERENCES
1.		Cheng, T-C., Orkin, S.H., Antonarakis, S.E., Potter, M.J., Sexton, J.P., Markham, A.F., Giardina, P.J.V., Li, A., and Kazazian, H.H., Jr.: Proc. Natl. Acad. Sci. USA, 81:2821, 1984.

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.