Diagnostic approach to inherited thrombocytopenias in a low-income setting.

GLEMBOTSKY ANA; MARÍA C. BARONI PIETTO; GOETTE NORA; AYALA DANIELA; MARIN OYARZUN CECILIA; DIANA R. ALTUNA

Carolina del Norte

Congreso; International Society on Thrombosis and Haemostasis (ISTH) 2020 VIRTUAL CONGRESS; 2020

International Society on Thrombosis and Haemostasis (ISTH)

Inherited thrombocytopenias (IT) remain a diagnostic challenge due to clinical andgenetic heterogeneity. Although more than 30 genes have been identified, the underlyingabnormality is unknown in half of the patients. Advent of next-generation technologiesrepresented significant advances although access is limited in low-income economies. Careful clinical phenotyping allowed diagnosis in a substantial proportionof patients and MYH9-RD was the disorder most easily recognized by the algorithm.Restricting the application of NGS to patients with negative results after the algorithmallowed to optimize resources and improved the diagnostic yield, representing a feasibleapproach in low-income settings.