Members

Name: Roger

Surname: Schutgens

Academic title: prof. dr.

Link to personal website:

http://www.vancreveldkliniek.nl

Which is your area of expertise for the "Disease/group of diseases"?

• Prevention and genetic counseling
• Diagnostics
• Treatment and care

Specify your expertise for the "Disease/group of diseases" (eg SCT, Molecular diagnosis):

Ageing hemophilia, cardiovascular disease in hemophilia, hemophilic arthropathy, thrombocytopathy

Diseases:

Hereditary thrombocytopenia with early-onset myelofibrosis Rare coagulation disorder Rare hemorrhagic disorder Rare hemorrhagic disorder due to a platelet anomaly Rare hemorrhagic disorder due to a constitutional platelet anomaly Rare hemorrhagic disorder due to a constitutional thrombocytopenia Syndromic constitutional thrombocytopenia Stormorken-Sjaastad-Langslet syndrome Thrombocytopenia-absent radius syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MYH9-related disease GNE myopathy Jacobsen syndrome Macrothrombocytopenia with mitral valve insufficiency Alpha delta granule deficiency Dense granule disease Wiskott-Aldrich syndrome Chédiak-Higashi syndrome Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome with neutropenia Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak syndrome type 9 Isolated constitutional thrombocytopenia Isolated hereditary giant platelet disorder Severe autosomal recessive macrothrombocytopenia Bernard-Soulier syndrome Thrombocytopenia with congenital dyserythropoietic anemia Autosomal dominant macrothrombocytopenia Alpha granule disease Gray platelet syndrome Quebec platelet disorder Medich giant platelet syndrome White platelet syndrome Paris-Trousseau thrombocytopenia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Hereditary thrombocytopenia with normal platelets X-linked thrombocytopenia with normal platelets Autosomal thrombocytopenia with normal platelets Congenital amegakaryocytic thrombocytopenia Bleeding diathesis due to thromboxane synthesis deficiency Isolated delta-storage pool disease Autosomal dominant thrombocytopenia with platelet secretion defect Rare hemorrhagic disorder due to a qualitative platelet defect Glanzmann thrombasthenia Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Ehlers-Danlos syndrome, fibronectinemic type Scott syndrome P2Y12 defect Pseudo-von Willebrand disease Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding disorder due to CalDAG-GEFI deficiency

Which is your patient age coverage?

• Adults
• Ageing

Member Representative

Subnetwork representative:

• Bleeding - Coagulation disorders