Molecular diagnosis of inherited platelet disorders: a tale of two realities – advanced vs. resource-limited setting

Inherited platelet disorders are a heterogeneous group of rare conditions characterized by impaired platelet production or function, often leading to significant bleeding complications. Accurate diagnosis is essential for effective management and improved patient outcomes. However, the complexity of these disorders, coupled with the reliance on sophisticated diagnostic technologies, presents substantial challenges, particularly in settings with limited resources. This narrative review examines the advancements and challenges in the molecular diagnosis of inherited platelet disorders, highlighting the stark contrast between advanced and resource-limited healthcare environments. In high-income regions, cutting-edge molecular techniques, such as next-generation sequencing (NGS), have transformed diagnostic precision by accurately identifying genetic mutations, enabling tailored treatment strategies and better prognostic insights. Nevertheless, genetic testing is not routinely employed as a first-line diagnostic tool, even in advanced centers, because conventional phenotypic and paraclinical methods, including coagulation assays, platelet function studies, flow cytometry, immunofluorescence, and electron microscopy, remain essential for establishing initial diagnoses. These tests often suffice in characterizing severe or classical phenotypes, with molecular analysis serving as a confirmatory or complementary approach when needed. Conversely, in resource-limited settings, access to advanced genetic platforms is restricted due to cost, infrastructure, and expertise barriers, leading to delayed or incomplete diagnoses and continued reliance on less specific clinical or laboratory evaluations. Bridging this divide requires context-appropriate strategies, such as cost-effective genetic testing platforms, strengthened international collaboration, and capacity-building initiatives. Bridging the diagnostic gap in inherited platelet disorders demands a global commitment to equitable healthcare delivery. By prioritizing affordable diagnostic solutions and fostering collaborative efforts, it is possible to ensure that all patients, irrespective of geographic or economic circumstances, benefit from timely and precise diagnoses. Such efforts promise to enhance treatment efficacy, reduce morbidity, and elevate the quality of life for individuals affected by these complex disorders.