IVS-I-5.(G-@A).html


MUTATION		IVS-I-5 (G->A)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta⁺ (severe)
MECHANISM		The G->A mutation at nt 5 of IVS-I reduces the efficien-cy of splicing of the normal 5' splicing site
IDENTIFICATION		Cloning of the beta-globin gene; amplification of the beta-globin gene; DNA sequencing; a new EcoRV splicing site is helpful in diagnosing the allele
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Hb 7-9 g/dl; MCV 71-79 fl; MCH 20-22 pg; Hb F 70-80%; Hb A₂ 2-5%
OCCURRENCE		In Algerian, Turkish, and Tunisian families
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None


REFERENCES
1.		Lapoumeroulie, C., Pagnier, J., Bank, A., Labie, D., and Krishnamoorthy, R.: Biochem. Biophys. Res. Commun., 139:709, 1986.

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.