In southern China, the average carrier rates of
alpha-thalassemia and
beta-thalassemia in the population are as high as 10.3% and 2.8%, respectively. Because of the high rates, they are known as 'social diseases' in some regions. In this study, the fluorescent gap PCR, which can detect the
alpha-thalassemia Southeast Asia deletion (SEA deletion), was applied in four clinical applications of preimplantation genetic diagnosis (
PGD) on four couples, among whom both partners were
alpha-thalassemia carriers. Two patients became pregnant and two healthy babies were born, which confirmed the
PGD results. The single cell multiplex nested PCR followed by reverse dot blot (RDB), which can simultaneously detect the 16
beta-thalassemia mutations in the Chinese population, was applied in four clinical
PGD cycles on four couples among whom both partners were
beta-thalassemia carriers. One pregnancy was achieved and it resulted in a live healthy birth, which confirmed the results of
PGD. The amplification efficiencies of the two protocols described above were 89.5% and 93.9%, respectively. The allele drop-out (
ADO) rates of these two protocols were 5.9% and 10.9%, respectively.
CONCLUSION: These studies represent the successful applications of
PGD protocols that can detect more than 95% of alpha- and
beta -thalassemia mutations in the Chinese population.