MUTATION -117 (G->A) Agamma; the Greek-Italian nd-HPFH
IDENTIFICATION Cloning and amplification; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Normal; Hb F 13.6 (7.1-19.0)% (n=42); Ggamma 5.0%;Hb A2 2.05 (1.2-3.0)% (n=37)
HEMATOLOGY IN HOMOZYGOTE(S) Hb F 24.0; 24.0%; Hb A2 0.8; 0.8%
OCCURRENCE In Greek and Italian families
HAPLOTYPE Type VII [+ - - - - - +]
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) With an undefined beta-thal allele: Hb A2 4.2%; Hb F 41.8%
MECHANISM This mutation occurs in a CCAAT element; three proteins can bind here: the ubiquitous CpI; the erythroid cell-specific NF-E, and a third, less well-defined, protein. This mutation likely alters the binding of one or more of these factors
1. Fessas, Ph. and Stamatoyannopoulos, G.: Blood, 24:223, 1964.
2. Sofroniadou, K., Wood, W.G., Nute, P.E., and Stamatoyannopoulos, G.: Br. J. Haematol., 29:137, 1975.
3. Collins, F.S., Metherall, J.E., Yamakawa, M., Pan, J., Weissman, S.M., and Forget, B.G.: Nature, 313: 325, 1985.
4. Gelinas, R., Endlich, B., Pfeiffer, C., Yagi, M., and Stamatoyannopoulos, G.: Nature, 313:323, 1985.
5. Superti-Furga, G., Barberis, A., Schaffner, G., and Busslinger, M.: EMBO J., 7:3099, 1988.
6. Ottolenghi, S., Camaschella, C., Comi, P., Giglioni, B., Longinotti, M., Oggiano, L., Dore, F., Sciarratta, G., Ivaldi, G., Saglio, G., Serra, A., Loi, A., and Pirastu, M.: Hum. Genet., 79:13, 1988.
7. Camaschella, C., Oggiano, L., Sampietro, M., Gottardi, E., Alfarano, A., Pistidda, P., Dore, F., Taramelli, R., Ottolenghi, S., and Longinotti, M.: Blood, 73:1999, 1989.

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.