Contact us   |  

Rare Hematological Diseases - Disease Groups

As a result of the revision and discussion of the RHD-DGs during the Board of the Network meeting (13-14 November 2019, Barcelona), a total of 70 RHD-DG has been identified. The Rare bleeding-coagulation disorders and related diseases subnetwork includes 9 disease groups encompassing 70 disorders

RHD-DGs and disorders included are currently under revision for final approval.


Rare bleeding-coagulation disorders and related diseases

Disease Group Disorders included
Hemophilia A Severe hemophilia A
Moderately severe hemophilia A
Mild hemophilia A
Symptomatic form of hemophilia A in female carriers
Acquired hemophilia
   
Hemophilia B Severe hemophilia B
Moderately severe hemophilia B
Mild hemophilia B
Symptomatic form of hemophilia B in female carriers
Acquired hemophilia
   
Von Willebrand disease Von Willebrand disease type 1
Von Willebrand disease type 2
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Acquired von Willebrand syndrome
   
Rare hemorrhagic disease due to constitutional coagulation factors defects (Other than Hemophilia and Von Willebrand disease) Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Congenital factor V deficiency
Congenital fibrinogen deficiency
Congenital alpha2-antiplasmin deficiency
Congenital factor XIII deficiency
Congenital factor XI deficiency
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital high-molecular-weight kininogen deficiency
Congenital prekallikrein deficiency
Combined deficiency of factor V and factor VIII
Congenital vitamin K-dependent coagulation factors deficiency
Congenital factor VII deficiency
Congenital factor II deficiency
Congenital factor X deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
East Texas bleeding disorder
Thrombomodulin-related bleeding disorder
Acquired prothrombin deficiency
   
Rare hemorrhagic disorder due to a constitutional platelet anomaly Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Syndromic constitutional thrombocytopenia
Dense granule disease
Isolated constitutional thrombocytopenia
Isolated hereditary giant platelet disorder
Rare hemorrhagic disorder due to a qualitative platelet defect
   
Rare hemorrhagic disorder due to an acquired platelet anomaly Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
TAFRO syndrome
HELLP syndrome
Fetal and neonatal alloimmune thrombocytopenia
Autoimmune thrombocytopenia
Kasabach-Merritt syndrome
   
Rare thrombotic disorder due to a coagulation factors defect Gaisböck syndrome
Rare thrombotic disorder due to a constitutional coagulation factors defect
Congenital factor XII deficiency
Familial thrombomodulin anomalies
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Rare hereditary thrombophilia
Hereditary thrombophilia due to congenital protein S deficiency
Hereditary thrombophilia due to congenital protein C deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Rare thrombotic disorder due to an acquired coagulation factors defect
Catastrophic antiphospholipid syndrome
Heparin-induced thrombocytopenia
Protein S acquired deficiency
Acquired purpura fulminans
Simple cryoglobulinemia
   
Rare thrombotic disorder due to quantitative platelet anomaly (Low) Congenital thrombotic thrombocytopenic purpura
Acquired thrombotic thrombocytopenic purpura
   
Rare thrombotic disorder due to quantitative platelet anomaly (High) Essential thrombocythemia
Familial thrombocytosis
Hereditary thrombocytosis with transverse limb defect

Euro Blood Net