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 |
