Acquired and inherited aplastic anemia

Aplastic anemia forms a heterogeneous group of rare diseases characterised by bone marrow insufficiency of varying degrees of severity, and can be life-threatening if appropriate treatment is not given (hematopoietic stem cell implant or immune-suppressant treatment).

• Acquired aplastic anemia: these diseases are characterised by the association of pancytopenia – which shows up in haematological tests – and low bone marrow levels, or even a total lack of bone marrow, which is replaced by fatty tissue. These rare diseases have an incidence rate of fewer than ten cases per million inhabitants per year.

• paroxysmal nocturnal haemoglobinuria (PNH) or Marchiafava-Micheli syndrome; This disease is characterised by sudden attacks, often at night, whereby the red cells are destroyed. The prevalence of PHN (number of people affected in a given population at a given moment in time) is not exactly known, but is believed to be 1 in 80,000 people in Europe;

• Fanconi anemia often manifests during early childhood, and is characterised, in the majority of cases, by gradual malfunction of the bone marrow. Fanconi syndrome can also be associated with various malformations, which vary greatly in severity and number, and increase the susceptibility to some types of cancer. Fanconi syndrome is a very rare genetic condition that affects around 180 people in France.

• Other constitutional aplastic anaemia diseases: the centre treats other rarer forms of disease for which the haematological consequences are the same (pancytopenia, and the risk of malignant hemopathy). Dyskeratosis congenita, GATA2 syndrome, MonoMAC, Shwachman syndrome and even congenital amegacaryocytosios.

ORPHA182040 – Aplastic anemia
ORPHA68383 – Rare constitutional aplastic anemia
ORPHA124 – Blackfan-Diamond anemia
ORPHA1775 – Dyskeratosis congenita
ORPHA84 – Fanconi anemia
ORPHA3088 – Revesz syndrome
ORPHA3322 – Hoyeraal-Hreidarsson syndrome
ORPHA3466 – WT limb-blood syndrome
ORPHA3319 – Congenital amegakaryocytic thrombocytopenia
ORPHA811 – Shwachman-Diamond syndrome
ORPHA314399 – Autosomal dominant aplasia and myelodysplasia
ORPHA397692 – Hereditary isolated aplastic anemia
ORPHA401764 – Pancytopenia-developmental delay syndrome
ORPHA164823 – Rare acquired aplastic anemia
ORPHA447 – Paroxysmal nocturnal hemoglobinuria
ORPHA824 – Primary myelofibrosis
ORPHA88 – Idiopathic aplastic anemia
ORPHA98421 – Red cell aplasia
ORPHA98871 – Transient erythroblastopenia of childhood
ORPHA98872 – Adult pure red cell aplasia

Aplastic anemia forms a heterogeneous group of rare diseases characterised by bone marrow insufficiency of varying degrees of severity, and can be life-threatening if appropriate treatment is not given (hematopoietic stem cell implant or immune-suppressant treatment).

• Acquired aplastic anemia: these diseases are characterised by the association of pancytopenia – which shows up in haematological tests – and low bone marrow levels, or even a total lack of bone marrow, which is replaced by fatty tissue. These rare diseases have an incidence rate of fewer than ten cases per million inhabitants per year.

• paroxysmal nocturnal haemoglobinuria (PNH) or Marchiafava-Micheli syndrome; This disease is characterised by sudden attacks, often at night, whereby the red cells are destroyed. The prevalence of PHN (number of people affected in a given population at a given moment in time) is not exactly known, but is believed to be 1 in 80,000 people in Europe;

• Fanconi anemia often manifests during early childhood, and is characterised, in the majority of cases, by gradual malfunction of the bone marrow. Fanconi syndrome can also be associated with various malformations, which vary greatly in severity and number, and increase the susceptibility to some types of cancer. Fanconi syndrome is a very rare genetic condition that affects around 180 people in France.

• Other constitutional aplastic anaemia diseases: the centre treats other rarer forms of disease for which the haematological consequences are the same (pancytopenia, and the risk of malignant hemopathy). Dyskeratosis congenita, GATA2 syndrome, MonoMAC, Shwachman syndrome and even congenital amegacaryocytosios.

ORPHA182040 – Aplastic anemia
ORPHA68383 – Rare constitutional aplastic anemia
ORPHA124 – Blackfan-Diamond anemia
ORPHA1775 – Dyskeratosis congenita
ORPHA84 – Fanconi anemia
ORPHA3088 – Revesz syndrome
ORPHA3322 – Hoyeraal-Hreidarsson syndrome
ORPHA3466 – WT limb-blood syndrome
ORPHA3319 – Congenital amegakaryocytic thrombocytopenia
ORPHA811 – Shwachman-Diamond syndrome
ORPHA314399 – Autosomal dominant aplasia and myelodysplasia
ORPHA397692 – Hereditary isolated aplastic anemia
ORPHA401764 – Pancytopenia-developmental delay syndrome
ORPHA164823 – Rare acquired aplastic anemia
ORPHA447 – Paroxysmal nocturnal hemoglobinuria
ORPHA824 – Primary myelofibrosis
ORPHA88 – Idiopathic aplastic anemia
ORPHA98421 – Red cell aplasia
ORPHA98871 – Transient erythroblastopenia of childhood
ORPHA98872 – Adult pure red cell aplasia