Codon.141.(CTG-@CCG).html


MUTATION		Codon 141 (CTG->CCG)

AMINO ACID REPLACEMENT		Leu->Pro
TYPE OF DELTA-THAL		delta⁺, perhaps delta°
MECHANISM		Formation of a (severely) unstable Hb
IDENTIFICATION		Amplification of the delta-globin gene; DNA sequencing
% HB A₂ IN HETEROZYGOTE(S)		Hb A₂ was quantitated by a standard procedure (no details given); its level in four heterozygotes was 1.4-1.6%
% HB A₂ IN HOMOZYGOTE(S)		In one homozygote no Hb A₂ detectable
OCCURRENCE		In a Greek Cypriot family
HAPLOTYPE		[+ - - - + - + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		None
OTHER INFORMATION		None


REFERENCES
1.		Trifillis, P., Ioannou, P., Schwartz, E., and Surrey, S.: Blood, 78:3298, 1991.

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.