Aplastic anemia
ORPHANET code: 397692 Group: Erythropoietic defects Subgroup: Aplastic anaemia What causes the disease and how common is it?Aplastic anemia (AA) is a disease due to stem cell and bone marrow damage that produces the inability of the stem cells to generate the mature blood cells. This causes a deficiency of all three blood cell types (pancytopaenia): red blood cells (RBCs) , leukocytes and platelets. .It is most prevalent in people in their teens...
Alpha-thalassaemia – trait or carrier
ORPHANET code: 846 OMIM code: 141800, 604131 ICD-10 code: D56.3 Group: Thalassaemias Subgroup: Alpha thalassaemia Alpha-thalassaemia - trait or carrier is a disorder of haemoglobin, a major component of the red blood cells. Haemoglobin is produced at a reduced rate. It is a benign disease. It should be distinguished from an iron deficiency. What causes the disease and how common is it?This is a genetic disease. It is linked to a decreased expression of one or...
Aldolase deficiency
Acronym: ALD ORPHANET code: 57 OMIM code: 611881 ICD-10 code: E74.0 Group: Red cell enzymopathies ALD is an enzyme of the anaerobic glycolytic pathway necessary for normal RBC survival. Aldolase A deficiency is an autosomal recessive enzyme defect. What causes the disease and how common is it?This is an extremely rare genetic disease and only six cases have been reported. It is linked to mutations of the ALD gene, encoding the ALD enzyme. These mutations lead...
Adenylate kinase deficiency
Acronym: AK ORPHANET code: 86817 OMIM code: 612631 ICD-10 code: D55.3 Group: Red cell enzymopathies AK is an enzyme involved in red cell nucleotide metabolism and necessary for normal RBC survival. AK deficiency is an autosomal recessive enzymopathy. In some cases, the chronic haemolytic anaemia is accompanied by neurological disease. What causes the disease and how common is it?This is a genetic disease. It is linked to mutations of the AK gene, encoding the AK enzyme....
Adenosine deaminase increased activity -ADA-
Acronym: ADA ORPHANET code: 99138 OMIM code: 102730 Group: Red cell enzymopathies Increased ADA activity (20 to 30 fold) is a very rare cause of congenital nonspherocytic haemolytic anaemia. This enzyme defect is transmitted as autosomal dominant trait. On the contrary, recessive hereditary deficiency of ADA is a cause of a severe combined immunodeficiency (SCID) without anaemia. What causes the disease and how common is it?This is a genetic disease leading to increased expression of...
Aceruloplasminemia
ORPHANET code: 48818 OMIM code: 604290 ICD-10 code: G23.0 Group: Rare iron metabolism related anemias Subgroup: Non sideroblastic anaemia This is a rare recessive disorder due to mutations in the CP gene encoding ceruloplasmin, the principal copper transport protein in plasma also involved in iron release from macrophages and other cells. Deficiency of CP causes moderate anemia with iron accumulation in liver, pancreas and basal ganglia. What causes the disease and how common is it?This is...