Improving blood disorder diagnosis: reflections on the challenges

Abstract

Summary Hematology laboratories have a vital role in providing diagnostic testing for a wide range of blood disorders. Improvements in hematology laboratory diagnostics are highly dependent on new discoveries on blood disorder pathology, the translation of new knowledge into assays for clinical testing purposes, and research that assesses, compares, and optimizes diagnostic practices. This article reviews the author's experiences with research leading to improved blood disorder diagnosis, including research studies on Quebec platelet disorder and other bleeding disorders, evaluations of practice, and research on the external quality assessment of diagnostic testing for platelet function disorders. The importance of research to advancing diagnostic testing for blood disorders is emphasized.

Detection of phosphatidyl serine on activated platelets' surface by flow cytometry in whole blood: a simpler test for the diagnosis of Scott syndrome

“…It could also be included in the diagnostic decision‐tree of mild bleeding phenotypes. Indeed, such patients present a true diagnosis challenge (Hayward, ). Coagulation defects, especially the absence or decrease of clotting factors, are usually easy to demonstrate.…”

How I investigate for bleeding disorders

“…Our center receives many referrals and shipped samples for bleeding problem assessments. This has been a source of rich experiences and observations, which inspired studies to evaluate commonly recommended tests to assess their performance, including their ability to detect abnormalities predictive of a bleeding disorder …”