Wednesday, May 12, 2010

Rapid Prenatal Test for Alpha-Thalassemia

Interesting article in Science Daily today on alpha-thalassemia screening. We will read the actual article and report on what assay methods they are using.

ScienceDaily (May 11, 2010) — Researchers from Mahidol University in Thailand have developed a rapid, high-throughput screening method for prevention and control of the blood disease thalassemia.

Their report appears in the May 2010 issue of The Journal of Molecular Diagnostics.

α-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 α-thalassemia may have some degree of protection against malaria, but children of parents who both carry the mutation α-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 α-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 α-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."

This study was supported in part by Vejdusit Foundation.
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Adapted from materials provided by American Journal of Pathology, via EurekAlert!, a service of AAAS.

Journal Reference:

1. Munkongdee T, Vattanaviboon P, Thummarati P, Sewamart P, Winichagoon P, Fucharoen S, Svasti S. Rapid diagnosis of α-thalassemia by melting curve analysis. Journal of Molecular Diagnostics, 2010; 12: 354-358 DOI: 10.2353/jmoldx.2010.090136