Test is based on quantifying free alpha globin chains in patient blood.
The French National Institute of Health and Medical Research (Inserm) is teaming up with in vitro diagnostics firm Sebia to develop a biological assay that can both diagnose and indicate the severity of beta thalassemia. The test is based on quantifying free alpha globin chains in patients’ blood, an approach developed by Inserm researchers working with a team at the genetic disease unit at the Henri-Mondor-Chenevier Hospital.
Sebia will support research carried out by Inserm, which will continue to develop the test. Sebia will in return have the potential to acquire exclusive rights to commercialize the test internationally. “This test provides an immediate indication of the severity of the disease, since the results can be available within a day, whereas it took a week with the old methods,” comments Kamran Moradkhani, associate practitioner at Henri-Mondor-Chenevier Hospital. “It ensures that diagnosis is oriented toward identifying the different mutations at work and gives us highly relevant indicators for comparing different groups of patients.”
Initial validation of the test has already been carried out, and a further trial will be carried out in 2013.