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.
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 |