Molecular and hematologic characterization of Scottish-Irish type (epsilon
gamma delta beta)zero thalassemia
RJ Trent, BG Williams, A Kearney, T Wilkinson and PC Harris
Clinical Immunology Research Centre, University of Sydney, New South Wales,
Australia.
The DNA deletion associated with an example of (epsilon gamma delta
beta)zero thalassemia (Scottish-Irish type) was characterized. The deletion
is approximately 205 kb in length and involves the epsilon, G gamma, A
gamma, delta, and beta globin genes. The breakpoint is located 263 bp 3' to
exon 3 of the beta globin gene. An LI (KpnI) repeat element approximately
320 bp in size is found at the 3' end of the novel DNA sequence. Different
clinical phenotypes for three heterozygous neonates suggest that the
deletion alone does not predict severity of (epsilon gamma delta beta)zero
thalassemia at this age.
Volume 76,
Issue 10,
pp. 2132-2138,
11/15/1990
Copyright © 1990 by The American Society of Hematology