IVS-II-2,3.(+11,.-2),.insertion.of.11.bp.html


MUTATION		IVS-II-2,3 (+11, -2); insertion of 11 bp (5'-ACGTTCT CTGA-3') and deletion of GA (nts 2 and 3 of IVS-II) between positions 1 and 4 of IVS-II

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Inactivation of the splice site at exon 2/IVS-II, activation of cryptic splice sites within IVS-II
IDENTIFICATION		Gene mapping; amplification of the beta-globin gene; sequencing; cloning and sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9.5 g/dl; MCV 60 fl; MCH 19 pg; reticulocytes 4.0%; anisocytosis, poikilocytosis; Hb A₂ 5.3%; Hb F 3.0%; beta/alpha ratio 0.47
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		Found in an Iranian man and his two children
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None


REFERENCES
1.		Kaeda, J.S., Saary, M.J., Saunders, S.M., Vulliamy, T.J., and Luzzatto, L.: Abstract, Proceedings of the Thalassemia Meeting, Nice, France, 1992.

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.