IVS-II-837.(T-@G),.html


MUTATION		IVS-II-837 (T->G);
		G 840 850 ^ \| \| TTATCTTCCTCCCACAG^CT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta⁺ or beta°
MECHANISM		The T->G mutation creates a new splicing site which may be preferentially utilized
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; confirmation with amplification using an allele specific primer
HEMATOLOGY IN HETEROZYGOTE(S)		No data provided
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		Asian Indians
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None


REFERENCES
1.		Varawalla, N.Y., Old, J.M., and Weatherall, D.J.: Br. J. Haematol., 79:640, 1991.

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.