Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical bleeding phenotypes. Genetic testing has become an important tool to complement traditional phenotypic testing, allowing for precise molecular characterisation and improved classification across the spectrum of bleeding disorders.
Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community
Asselta, Rosanna;
2026-01-01
Abstract
Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical bleeding phenotypes. Genetic testing has become an important tool to complement traditional phenotypic testing, allowing for precise molecular characterisation and improved classification across the spectrum of bleeding disorders.File in questo prodotto:
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