MUTATION		-175 (T->C) Ggamma; nd-HPFH
IDENTIFICATION		Cloning; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal Hb F 22.1%; Hb A2 1.1%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Black family
HAPLOTYPE		[- + - - - + ± + ± + + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb S: Hb A2 1.9%; Hb F 29.5% (100% Ggamma); Hb A 27.5%; Hb S 41.1%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
MECHANISM		The octamer ATGCAAAT (-182 through -175) likely binds two proteins: the erythroid specific NFE-1 and OTF-1. The mutation T->C at -175 might alter the binding of one or both transacting factors

REFERENCES
1.		Friedman, S. and Schwartz, E.: Nature, 259:138, 1976.
2.		Surrey, S., Delgrosso, K., Malladi, P., and Schwartz, E.: Blood 71:807, 1988.

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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.