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mutations – eLearning Platform
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mutations

Role of Chromogenic FVIII Assays in Hemophilia A Diagnosis

In the Tuesday afternoon session entitled Role of Chromogenic Assays in Hemophilia Diagnosis, Elizabeth Duncan presented a comparison of clotting assays versus the chromogenic assay in quantifying FVIII, highlighting genotype and phenotype discrepancies and reverse discrepancies.

FXI Deficiency: Genotype, Phenotype and Management

In the Monday afternoon session entitled Rare Bleeding Disorders, Gillian Gidley reviews the genotypes and phenotypes associated with FXI deficiency, shows data on different diagnostic assays, and covers recommendations for management of patients with FXI deficiency.