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- Aceruloplasminemia
- Adenosine deaminase increased activity -ADA-
- Adenylate kinase deficiency
- Aldolase deficiency
- Alpha-thalassaemia - trait or carrier
- Atransferrinemia
- Autosomal dominant sideroblastic anaemia
- Autosomal recessive sideroblastic anaemia
- Beta-thalassaemia - trait or carrier
- Beta-thalassaemia major (and intermedia)
- CDA with thrombocytopenia (GATA I mutation)
- Compound heterozygous sickling disorders
- Congenital acanthocytosis
- Congenital dyserythropoietic anaemia type I
- Congenital dyserythropoietic anaemia type II
- Congenital dyserythropoietic anaemia type III
- Delta Beta-thalassaemia
- Diamond- Blackfan-Anemia
- DMT1- deficiency anaemia
- Familial hypoplastic anaemia
- Fanconi anaemia
- Gamma-glutamyl-cysteine synthetase deficiency
- GLRX5-related Sideroblastic anaemia
- Glucose phosphate isomerase deficiency
- Glucose-6-phosphate dehydrogenase deficiency
- Glutathione reductase deficiency
- Glutathione synthetase deficiency
- Haemoglobin C disease
- Haemoglobin D disease
- Haemoglobin E disease
- Haemoglobin H disease
- Haemoglobin Lepore
- Haemoglobin M with anaemia
- Hereditary Elliptocytosis
- Hereditary persistance of fetal haemoglobin
- Hereditary Spherocytosis
- Hereditary Stomatocytosis
- Hexokinase deficiency
- Hydrops fetalis
- Imerslund-Gräsbeck-Syndrom
- Iron - refractory iron deficiency Anemia
- Kearns-Sayre syndrome
- Lecithin cholesterol acyltransferase deficiency
- Mitochondrial myopathy sideroblastic anaemia
- Other thalassaemias
- Other types of congenitale dyserythropoetic Anemia
- Pancytopenia with malformations
- Paroxysmal nocturnal hemoglobinuria
- Pearson's Syndrome
- Phosphofructokinase deficiency
- Phosphoglycerate kinase deficiency
- Pyrimidine 5 nucleotidase deficiency
- Pyruvate kinase deficiency
- Sickle cell anaemia
- Sickle cell trait
- Sideroblastic anaemia associated with ataxia
- SLC25A38-related Sideroblastic anaemia
- Thiamine-responsive megaloblastic anemia
- Triose phosphate isomerase deficiency
- Unstable haemoglobin
- Wolfram Syndrome
- X linked sideroblastic anaemia (gene ALAS2)
What is anaemia?
Anaemia means that the haemoglobin concentration and the so called haematocrit in blood are lower than normal. In most, but not in all, of the many types of anaemia, there is also a decrease in the number of red blood cells.
What is a rare anaemia?
According to the European Commission a disease is rare when its population frequency is less than 5 cases in 10,000 individuals. The rare causes of anaemia (rare anaemias) are an example of rare diseases (RD). Up to date, about 90 rare anaemias have been described.
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Enerca is a project in the Health Programme 2008 of the European Commission.