A new test developed by a team of researchers led by Saovaros Svasti, PhD, at Mahidol University in Nakornpathom, Thailand, quickly and accurately distinguishes α-thalassemia-1 heterozygotes and α-thalassemia-2 homozygotes.The test eliminates the need for post-PCR electrophoresis, which is time-consuming and labor-intensive, and decreases the risk of contamination between samples.
The rapid test is suitable for screening large populations and will increase prevention and control of thalassemia.
Although α-thalassemia may provide some protection from malaria, when 2 people carry the α-thalassemia-1 gene, their children may develop Hb Bart’s hydrops fetalis, which results in death before or soon after birth.
The team genotyped α-thalassemia-1 using multiplex PCR and a melting curve to design primers that specifically amplify 2 deletion fragments, the ___SEA and ___THAI types, and 2 normal fragments, ψς- and α2-globin gene.
The melting curve analysis was performed in 130 subjects parallel with conventional gap-PCR analysis. The results showed 100% concordance.
The study was published in the May issue of the Journal of Molecular Diagnostics. (Fonte: http://www.hematologytimes.com/)
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