-200.(+C).Ggamma,.the.Tunisian.nd-HPFH.html


MUTATION		-200 (+C) ^Ggamma; the Tunisian nd-HPFH

IDENTIFICATION		Amplification; sequencing of amplified DNA; cloning and sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal; Hb F 25.0 (18.0-28.0)% (n=4) ^Ggamma only (PAGE); Hb A₂ 1.45 (1.2-1.9)% (n=4)
HEMATOLOGY IN HOMOZYGOTE(S)		Normal; Hb F 49.0, 48.0% (n=2) ^Ggamma only (PAGE); Hb A₂1.2, 1.6% (n=2)
OCCURRENCE		In a Tunisian family
HAPLOTYPE		[- + + - + + +] (type 3 as in beta^S-Senegal)
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None observed
MECHANISM		The authors believe that this frameshift does not affect SpI binding and consider the possibility of a change in tertiary DNA structure more likely


REFERENCES
1.		Pissard, S., M'rad, A., Beuzard, Y., and Roméo, P-H.: Br. J. Haematol., 95:67, 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.