MUTATION		-202 (C->T) Agamma; nd-HPFH
IDENTIFICATION		Cloning; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not observed
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Black family
HAPLOTYPE		[+ - - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb S: Hb F 2.5 (1.6-3.9)% (n=5); Hb A2 2.7 (2.6-2.8)% (n=5); Ggamma 7.2 (4.1-10.9)% (n=5); Agamma 92.8 (89.1-95.9)% (n=5)
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
MECHANISM		This mutation may affect the binding of SpI or modify an intramolecular structure of DNA [see also -202 (C->G) Ggamma]

REFERENCES
1.		Hattori, Y., Kutlar, F., Mosley, C.J., Mayson, S.M., and Huisman, T.H.J.: Hemoglobin, 10:185, 1986.
2.		Gilman, J.G., Mishima, N., Wen, X.J., Kutlar, F., and Huisman, T.H.J.: Blood, 72:78, 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.