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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

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