Diagnosis
TDT entails lifelong regular transfusion requirement for survival when
the patients were confirmed diagnosed with complexed heterozygote or
homozygote of β-globin gene mutations. Complete deficiency of β-globin
expression is regarded as β0 and partial β-globin
expression deficiency is regarded as β+.
β0/β+,
β0/β0 and
β+/β+ are representing complexities
of β0 globin genes and/or β+ globin
genes.