A definitive hemophilia diagnosis is based on a factor assay to demonstrate the deficiency of FVIII or FIX.1
Screening tests are carried out to determine if coagulation is occurring normally. A number of tests are performed, including platelet function and count, aPTT and PT tests.1
Diagnosis is confirmed by performing factor assays (FVIII or FIX).1 These tests also assess the level of the clotting factor activity and indicate the severity of the factor deficiency.1
People and their families with a history of bleeding disorders should be offered genetic counselling before genetic testing.1 Genetic counselling should also provide information and advice on PND, management of pregnancy and delivery in carriers of hemophilia and PGD.1
A major complication associated with hemophilia is joint damage (arthropathy). It can cause permanent painful damage to the joints, restricting mobility and negatively impacting the quality of life.2,3
aPTT, activated partial thromboplastin time; FVIII, factor VIII; FIX, factor IX; PGD, pre-implantation genetic diagnosis; PND, prenatal diagnosis; PT, prothrombin time.
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