IVS-I.(-2).or.codon.30.(A-@G),.AG^GTTGGT.html


MUTATION		IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT

AMINO ACID REPLACEMENT		Position 30 AGG->GGG (Arg->Gly)
TYPE OF BETA-THAL		Probably beta°
MECHANISM		This substitution likely abolishes splicing at the normal 5' splicing
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; allele specific testing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.4-11.7 g/dl; MCV 61 fl; Hb A₂ 4.7-5.1%; Hb F <1%
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in a few Sephardic Jewish families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		The abnormal Hb with the beta30 Arg->Gly substitution could not be identified


REFERENCES
1.		Waye, J.S., Eng, B., Patterson, M., Chui, D.H.K., and Fernandes, B.J.: Hemoglobin, in press, 1997.

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.