TYPE Italian Ggamma(Agammadeltabeta)°-Thal (see Fig. 16)
CAUSE Removal of ~52 kb which includes (part of) the Agamma, delta, and beta genes. The 5' breakpoint is in exon 2 of the Agamma gene; the last conserved codon is codon 54. The 3' breakpoint is at ~30 kb 3' to the beta gene. A 5'-TGGG-3' sequence is common at both breakpoints.
DETECTION Gene mapping with different enzymes and probes; sequencing.
PHENOTYPE No details provided.
DISTRIBUTION In a family from Naples, Italy.
1. De Angioletti, M., Lacerra, G., and Carestia, C.: Abstract 148, The 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, April 1997.

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.