Rare bleeding disorder diagnosis improved with super-resolution microscopy

Researchers from UCL, the National Physical Laboratory and the Royal Free Hospital have differentiated between patients with a rare bleeding disorder and healthy volunteers using super-resolution microscopy, providing an alternative method for accurately and cost-effectively diagnosing rare platelet diseases. Platelets form part of the blood and they help heal wounds and prevent bleeding by forming blood clots. They do this through tiny granules which release molecules for blood clotting. Platelet disorders occur when these granules are too few in number, are misshapen or don't release the right molecules. As the causes for platelet disorders vary so much, specific treatment can be improved if diagnostic tests can distinguish the different types. Microscopy provides an excellent diagnostic approach, but to study tiny platelet granules, electron microscopy (EM) is necessary. This is costly, requires fresh samples, gives limited information about what is wrong and is not widely available in the NHS for patients with bleeding disorders.