MUTATION		-175 (T->C) Agamma; the Black nd-HPFH
IDENTIFICATION		Amplification and DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal: Hb F 37.0, 38.5, 36.7%; Ggamma 18.1, 25.9, 37.9%, the Ggamma gene of the same chromosome had a T at -158; Hb A2 1.2; 1.6; 1.6%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a few Black families
HAPLOTYPE		[- + + - + + + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb C: A 15.7%; A2 1.6%; F 37.3%; C 45.4%
		With Hb S: A 16.8%; A2 1.9%; F 40.4%; S 41.0%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
MECHANISM		Alteration of the binding of (a) transacting factor(s) [see -175 (T->C) Ggamma]

REFERENCES
1.		Stoming, T.A., Stoming, G.S., Lanclos, K.D., Fei, Y.J., Altay, C., Kutlar, F., and Huisman, T.H.J.: Blood, 73:329, 1989.
2.		Coleman, M.B., Adams, J.G., III, Steinberg, M.H., Plonczynski, M.W., Harrell, A.H., Castro, O., and Winter, W.P.: Am. J. Hematol., 42:186, 1993.

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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.