Researchers from Mahidol University have developed a rapid, high-throughput screening method for prevention and control of thalassemia. The related report by Munkongdee et al, “Rapid diagnosis of alpha-thalassemia by melting curve analysis,” appears in the May 2010 issue of The Journal of Molecular Diagnostics.
alpha-Thalassemia is a blood disease caused by a genetic defect in the production of a component of hemoglobin. This disease is
more prevalent in areas that either were previously or are currently endemic for malaria, including the Mediterranean and South Asia. Carriers of mutations in alpha-thalassemia may have some degree of protection against malaria, but children of parents who both carry the mutation alpha-thalassemia-1 may develop Hb Bart’s hydrops fetalis, which results in fetal death in utero or soon after birth.
Prenatal screening and genetic counseling are essential for prevention and control of alpha-thalassemia. The current diagnostic assay is both labor-intensive and time-consuming. Therefore, researchers led by Dr Saovaros Svasti of Mahidol University developed a novel, rapid, and reliable assay for the diagnosis of alpha-thalassemias. This assay has high sensitivity and specificity, rapid turnaround time, and a
decreased risk of contamination between samples.
Munkongdee et al suggest that this technique will “allow [for] high throughput screening suitable for prevention and control of thalassemia in the Southeast Asia population.”
Source: Journal of Molecular Diagnostics.
