IVS-I-116.(A-@G).alpha2.gene,.html


MUTATION		IVS-I-116 (A->G) alpha2 gene;
		32 CAG^G·ATG-> CGG^G·ATG
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		The A->G mutation occurs in the acceptor splice site which interferes with the correct splicing of the RNA
IDENTIFICATION		DGGE analysis and sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.4-14.3 g/ld; MCV 75-100 fl; MCH 24.6-29.8 pg; Hb A₂ 1.96-2.98%; alpha/beta ratio 0.79-0.85 (controls 1.0)
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in two (unrelated?) Dutch families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		No, except an IVS-I-55 (T->G) polymorphism in the alpha2-globin gene
OTHER INFORMATION		None


REFERENCES
1.		Harteveld, C.l., Heister, J.G.A.M., Giordano, P.C., Batelaan, D., Delft, P.v., Haak, H.L., Wijermans, P.W., Losekoot, M., and Bernini, L.F.: Br. J. Haematol., 95:461, 1996.

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.