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Novel Therapieshemophilia_logo.pngNovel TherapiesEventshemophilia_logo.pngAboutAboutWhat is Hemophilia?Hemophilia Burden of DiseaseHeritageDiagnosisDiagnosisSigns and SymptomsInvestigationsTreatmentTreatmentTreatment OptionsNovel TherapiesSupport & ResourcesSupport & ResourcesPatient Support ResourcesHemMobile®Patient Support LeafletsEvents

Investigations

A definitive hemophilia diagnosis is based on a factor assay to demonstrate the deficiency of FVIII or FIX.1

Screening Tests

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

Factor Assays

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

Other Appropriate Tests

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

Outcome Assessments

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.

References:

Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition [published correction appears in Hemophilia. 2021;27(4):699]. Hemophilia. 2020;26(suppl 6):1-158. Pulles AE, Mastbergen SC, Schutgens RE, Lafeber FPJG, van Vulpen LFD. Pathophysiology of hemophilic arthropathy and potential targets for therapy. Pharmacol Res. 2017;115:192-199.Melchiorre D, Manetti M, Matucci-Cerinic M. Pathophysiology of Hemophilic Arthropathy. J Clin Med. 2017;6(7):63.

   

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Diagnosis
About

An overview of hemophilia, including the different types of hemophilia, their causes, consequences and prevalence.
 

What is hemophilia?

Support Your Patients

Pfizer is committed to supporting you and your patients with hemophilia.
Learn more about the patient resources available to support your patients.

Patient support resources

Treatment

Understand the current treatment options and recommendations for patients with hemophilia A and B.
 

Treatment options



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