Whole Blood PCR for Rapid Screening of α0-Thalassemia

: Hemoglobin Bart's hydrops fetalis (homozygous α0-thalassemia) is the most severe form of thalassemia in the Southeast Asian population. Fetuses with this disorder almost always die in utero or shortly after birth. Screening of α0-thalassemia carrier is therefore crucial. Currently, diagnosis of α0-thalassemia genes is done by DNA-based analysis which relies on DNA extraction. We have developed a simple screening format based on whole blood PCR assay. The method was validated on 198 specimens and the results show 100% concordance with a conventional gap-PCR on DNA specimens. The protocol could also be applied to amniotic fluid specimens in prenatal diagnostic testing. The assay developed should facilitate carrier screening and prenatal diagnosis of Hb Bart's hydrops fetalis syndrome in the region.