MUTATION		-196 (C->T) Agamma; the Italian nd-HPFH
IDENTIFICATION		Cloning; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal; alpha/non-alpha ratio 0.92-0.99;
		Hb F 14.3 (12.0-16.0)%(n=3); Ggamma <5.0%;
		Hb A2 2.2 (1.9-2.7)% (n=3)
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In Italian families
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With the codon 39 (C->T) beta-thal allele (Hb A2 4.0; 4.2%; Hb F 38.0; 40.0%; Ggamma 20.0%; Agamma 80.0%)
MECHANISM		It is possible that this mutation alters the affinity of a transacting factor [see also -202 (C->G) Ggamma]

REFERENCES
1.		Giglioni, B., Casini, C., Mantovani, R., Merli, S., Comi, P., Ottolenghi, S., Saglio, G., Camaschella, C., and Mazza, U.: EMBO J., 3:2641, 1984.

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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.