-114.(C-@G).Ggamma,.the.Australian.nd-HP.html


MUTATION		-114 (C->G) ^Ggamma; the Australian nd-HPFH

IDENTIFICATION		Amplification; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal: Hb F 8.6%; ^Ggamma 90.0%; Hb A₂ 2.3%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In one Australian male
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
MECHANISM		[see -117 (G->A) ^Agamma] The proband had a C->T mutation at -158 (^Ggamma) on the opposite chromosome


REFERENCES
1.		Motum, P.I., Deng, Z-M., Huong, L., and Trent, R.J.: Br. J. Haematol., 86:219, 1994.

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.