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 Bone marrow failure and hematopoietic disorders: 12 disease groups encompassing 42 disorders.
RHD-DGs and disorders included are currently under revision for final approval.
Bone Marrow Failures
| Disease Group | Disorders Included |
|---|---|
| Congenital dyserythropoietic anemia | Thrombocytopenia with congenital dyserythropoietic anemia |
| Congenital dyserythropoietic anemia type I | |
| Congenital dyserythropoietic anemia type III | |
| Congenital dyserythropoietic anemia type II | |
| Congenital dyserythropoietic anemia type IV | |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | |
| Constitutional deficiency anemia | Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder |
| Methylmalonic acidemia with homocystinuria | |
| Methylmalonic acidemia with homocystinuria, type cblC | |
| Methylmalonic acidemia with homocystinuria, type cblD | |
| Methylmalonic acidemia with homocystinuria type cblF | |
| Methylmalonic acidemia with homocystinuria, type cblJ | |
| Methylmalonic acidemia with homocystinuria, type cblX | |
| Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder | |
| Transcobalamin deficiency | |
| Congenital intrinsic factor deficiency | |
| Homocystinuria without methylmalonic aciduria | |
| Methylcobalamin deficiency type cblE | |
| Methylcobalamin deficiency type cblG | |
| Methylcobalamin deficiency type cblDv0 | |
| Gräsbeck-Imerslund disease | |
| Constitutional megaloblastic anemia due to folate metabolism disorder | |
| Formiminoglutamic aciduria | |
| Hereditary folate malabsorption | |
| Constitutional megaloblastic anemia with severe neurologic disease | |
| Vitamin B12- and folate-independent constitutional megaloblastic anemia | |
| Hereditary orotic aciduria | |
| Thiamine-responsive megaloblastic anemia syndrome | |
| Hypoxanthine-guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome | |
| Hypoxanthine-guanine phosphoribosyltransferase deficiency partial deficiency | |
| Paroxysmal nocturnal hemoglobinuria | Paroxysmal nocturnal hemoglobinuria |
| Primary myelofibrosis | Primary myelofibrosis |
| Red cell aplasia | Transient erythroblastopenia of childhood |
| Adult pure red cell aplasia | |
| Rare acquired aplastic anemia (Other, idiopathic) | Rare acquired aplastic anemia (Other, idiopathic) |
| Blackfan-Diamond anemia | Blackfan-Diamond anemia |
| Dyskeratosis congenita | Dyskeratosis congenita |
| Revesz syndrome | |
| Hoyeraal-Hreidarsson syndrome | |
| Fanconi anemia | Fanconi anemia |
| Congenital amegakaryocytic thrombocytopenia | Congenital amegakaryocytic thrombocytopenia |
| Shwachman-Diamond syndrome | Shwachman-Diamond syndrome |
| Rare constitutional aplastic anemia (Other) | WT limb-blood syndrome |
| Autosomal dominant aplasia and myelodysplasia | |
| Hereditary isolated aplastic anemia | |
| Pancytopenia-developmental delay syndrome | |
| Monocytopenia with susceptibility to infections | |
| Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome | |
| Autosomal thrombocytopenia with normal platelets |
