thalassaemia

thalassaemia results from a variety of molecular defects
that either reduce or completely abolish -globin synthesis. Over
200 mutations have so far been reported with point mutations
and small deletions comprising the majority. Although a large
number of mutations have been reported, the prevalence of
specific mutations is dependent on the ethnic origin. Diagnostic
testing therefore requires knowledge of the mutation spectrum
in the population being screened. Eighty per cent of mutations