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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 disease

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-

 

   
  
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