This section describes the diagnostic algorithms used to diagnose and monitor selected bleeding disorders.
FVIII replacement therapy for patients with haemophilia A (HA) is guided by accurate laboratory-based diagnosis and post-infusion monitoring.
FIX replacement therapy for patients with haemophilia B (HB) is guided by accurate laboratory-based diagnosis and post-infusion monitoring.
The development of an inhibitor complicates the management of persons with haemophilia, limiting treatment options and resulting in poorer outcomes. Patients with haemophilia A (HA) or B (HB) who are exposed to products that contain coagulation factors should be screened for the presence of an inhibitor whenever a reduced treatment response or lower than expected factor recovery levels are observed.
Acquired haemophilia A (AHA) should be suspected in any patient with acute or recent bleeding symptoms, no previous history of a bleeding disorder, an unexplained, isolated activated partial thromboplastin time (aPTT) but a normal prothrombin time (PT).
The diagnosis of FXIII congenital deficiency (FXIII CD) must be based on results of appropriate laboratory tests. Standard coagulation screening tests, including prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen level, platelet count and bleeding time are normal, therefore a complete evaluation of the clotting system should include specific FXIII assays.
FVII congenital deficiency (FVII CD) should be suspected in any patient presenting with an isolated prolonged prothrombin time (PT) and a normal activated partial thromboplastin time (aPTT). The diagnosis can be confirmed using a FVII activity assay and molecular genetic analysis.
Platelet function assays serve as the basis for a differential diagnosis of Glanzmann’s thrombasthenia. Confirmation is provided by a molecular characterisation of surface glycoprotein expression and the corresponding genetic analysis.