~67.kb.deletion,.the.Italian.deletion.html


MUTATION		~67 kb deletion (see Fig. 4); the Italian deletion

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		No beta-mRNA is produced
IDENTIFICATION		Gene mapping; inverse PCR; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Father is the heterozygote; no data provided; Hb F 9%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a family from Southern Italy
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband with thalassemia intermedia is a compound heterozygote for codon 44 (-C) and the newly detected deletion: Hb 10.6 g/dl; MCV 60 fl; MCH 19 pg; Hb A₂ 5%; Hb F 95%; gamma/alpha in vitro chain synthesis 0.47
OTHER INFORMATION		The 5' breakpoint is 2,134 bp 3' to the poly A site of the delta-globin gene


REFERENCES
1.		Lacerra, G., De Angioletti, M., Sabato, V., Schettini, F., and Carestia, C.: Abstract 152, 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.