Diagnostic challenges in current laboratory practice at Italian Hemophilia Centers: findings from a nationwide survey

Background: Laboratory diagnosis is essential for identifying inherited bleeding disorders and monitoring therapy. We report results of a national survey by the Italian Association of Hemophilia Centers (AICE) that assesses test and reagent availability relative to guidelines and identifies improvement areas in reference laboratories (RLs) affiliated with hemophilia centers.
Methods: Forty-three RLs participating in the ECAT External Quality Assessment completed an online questionnaire of 51 items across 11 sections.
Results: Of surveyed RLs, 46.5% are located within hemophilia centers, and 53.5% are external, most within the same hospital. Most employ dedicated hemostasis personnel and use analytical platforms from Werfen, Siemens, or Stago. Nearly all perform one-stage assays for FVIII and FIX activity; 86% also use chromogenic substrate assays (CSA). Availability of CSA for FIX and capacity for CSA-based inhibitor titration are limited. Significant heterogeneity exists in reagent selection and application, notably for activated partial thromboplastin time and FVIII/FIX assays, and in von Willebrand disease (VWD) diagnostic workflows. Turnaround times are generally longer, and reagent use is more variable in external RLs.
Conclusions: Practices across several RLs do not fully align with national and international recommendations for the diagnosis and monitoring of hemophilia and VWD. Regional procurement policies influence test availability. Findings support AICE’s initiative to establish a working group to improve laboratory diagnostic standards and highlight the need for targeted training and collaboration among clinical, laboratory, and healthcare management stakeholders. These data provide a baseline for harmonizing practices, guiding procurement decisions, and prioritizing education, research, and quality improvement initiatives nationally.