Public Release:  Rapid prenatal test for alpha-thalassemia

American Journal of Pathology

Nakornpathom, Thailand - 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 α-thalassemia by melting curve analysis," 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."

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Munkongdee T, Vattanaviboon P, Thummarati P, Sewamart P, Winichagoon P, Fucharoen S, Svasti S: Rapid diagnosis of α-thalassemia by melting curve analysis. J Mol Diagn 2010, 12:354-358.

This study was supported in part by Vejdusit Foundation.

For press copies of the articles, please contact Dr. Angela Colmone at 301-634-7953 or acolmone@asip.org.

The Journal of Molecular Diagnostics, the official publication of the Association for Molecular Pathology, co-published by the American Society for Investigative Pathology, seeks to publish high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, or the description or polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods for diagnosis or monitoring of disease or disease predisposition.

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