MUTATION		-195 (C->G) Agamma; the Brazilian nd-HPFH
IDENTIFICATION		Amplification; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal: Hb F 4.5; 4.7; 7.0%; Ggamma 13.9; 9.3; 9.7%; Hb A2 2.15%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Brazilian family (Caucasian)
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The second chromosome carries a 4 bp deletion (-225 through -222 Agamma)
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
MECHANISM		This mutation might, to some extent, alter the binding of transacting factor(s) [see also -202 (C->G) Ggamma)

REFERENCES
1.		Costa, F.F., Zago, M.A., Cheng, G., Nechtman, J.F., Stoming, T.A., and Huisman, T.H.J.: Blood, 76: 1896, 1990.

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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.