Rare Anaemias

Here we compiled an alphabetical list of rare anaemias. Synonyms, if existing, are included. For the most relevant disorders you will find easy-to-understand descriptions.

	Adenosine deaminase deficiency -ADA-
	Adenylate kinase deficiency -AK-
	Aldolase deficiency -ALD-
	Alpha thalassaemia
	Alpha thalassaemia - mental retardation X-linked
	Alpha-beta lipoproteinaemia -ABL-
	Aplastic Anaemia -AA-
	Atransferrinaemia
	Beta thalassaemia
	Beta thalassaemia major
	Congenital dyserythropoietic anaemia type I -CDA I-
	Congenital dyserythropoietic anaemia type II -CDA II-
	Congenital dyserythropoietic anaemia type III -CDA III-
	Congenital dyserythropoietic anaemia variant type
	Congenital erythropoietic porphyria -CEP-
	Cooley disease
	Cryohydrocytosis -CH-
	Diamond - Blackfan anaemia
	Dihydrofolate reductase congenital deficiency -DHFR-
	DMT1 deficiency
	Dyskeratosis congenita
	Elliptocytosis hereditary-HE-
	Elliptocytosis hereditary atypical
	Elliptocytosis rhesus-unlinked
	Enolase deficiency -ENOL-
	Fanconi anaemia
	Folate malabsorption hereditary
	Gama-glutamyl cysteine synthetase deficiency -GCS-
	Glucose-6-phosphate dehydrogenase deficiency -G6PD-
	Glucose phosphate isomerase deficiency -GPI-
	Glutathione reductase deficiency -GR-
	Glutathione synthetase deficiency -GS-
	Glyceraldehyde phosphate dehydrogenase deficiency -GAPD-
	Gut folate conjugase congenital deficiency
	Haemoglobin C – Harlem
	Haemoglobin C - homozygous
	Haemoglobin D
	Haemoglobin E
	Haemoglobin H
	Haemoglobin J
	Haemoglobin M -associated with haemolysis-
	Haemoglobin M -metahaemoglobinaemia-
	Haemoglobin S
	Haptocorrin congenital deficiency
	Hereditary persistance of foetal haemoglobin
	Hereditary spherocytosis -HS-
	Hexokinase deficiency -HK-
	Homocysteinuria
	Hydrocytosis hereditary -overhydrated form-
	Hyperhomocysteinaemia congenital
	Ileal receptor congenital deficiency
	Imerslund - Gräsbeck disease
	Intermediate thalassaemia
	Intrinsic factor congenital deficiency
	Iron deficiency anaemia due to congenital intestinal malabsorption
	Leach phenotype
	Lecithin cholesterol acyltransferase deficiency -LCAT-
	Lutheran null phenotype
	Mc Leod neuroacanthocytosis syndrome
	Megaloblastic anaemia congenital
	Methylcobalamine congenital deficiency
	Methylene tetrahydrofolate reductase hereditary -MTHFR-
	Minkowski-Chauffard disease
	Myelodysplastic sideroblastic anaemia
	Orotic aciduria hereditary
	Ovalocytosis hereditary
	Ovalocytosis Southeast Asian
	Ovalocytosis spherocytic
	Paroxysmal nocturnal haemoglobinuria –PNH-
	Pearson syndrome
	Pernicious anaemia juvenile
	Phosphofructokinase deficiency -PFK-
	Phosphogluconate dehydrogenase deficiency -6PGD-
	Phosphoglycerate kinase deficiency -PGK-
	Phosphoglycerate mutase deficiency -PGAM-
	Pseudohyperkaliemia familial -HPHK-
	Pyrimidine 5 nucleotidase deficiency -P5'N-
	Pyropoikilocytosis hereditary -HPP-
	Pyruvate kinase deficiency -PK-
	Rendu-Osler-Weber disease
	Rh null syndrome -Rh null-
	Sickle cell disease
	Sideroblastic anaemia congenital
	Target cell syndromes
	Thiamine-responsive megaloblastic anaemia -TRMA-
	Transcobalamin II congenital deficiency -TC2-
	Triose phosphate isomerase deficiency -TPI-
	Unstable haemoglobins
	Wilson disease
	Xerocytosis hereditary -dehydrated form-