CAP.+1.(A-@C).html


MUTATION		CAP +1 (A->C)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta⁺
MECHANISM		Decreased level of mRNA is expected
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not provided
HEMATOLOGY IN HOMOZYGOTE(S)		The proband is a homozygote; MCV 71 fl; Hb A₂ 4.1%; Hb F <2%
OCCURRENCE		Asian Indian
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None


REFERENCES
1.		Wong, C., Dowling, C.E., Saiki, R.K., Higuchi, R.G., Erlich, H.A., and Kazazian, H.H., Jr.: Nature, 330: 384, 1987.

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.