X linked sideroblastic anaemia (gene ALAS2)
Acronym: ASLX ORPHANET code: 75563 OMIM code: 301300 ICD-10 code: D64.0 Group: Rare iron metabolism related anemias Subgroup: Non syndromic sideroblastic anaemias Non-syndromic congenital sideroblastic anemia (CSA) is characterized by anemia and iron overload of erythroid precursors and other organs and it is due to mutations of at least 3 genes (ALAS2, SLC25A38 and GLRX5). X-linked CSA is due to mutations of the erythroid-specific enzyme ALAS2, the first enzyme of the heme biosynthetic pathway. What causes the disease...
Unstable haemoglobin
ORPHANET code: 99139 ICD-10 code: D58.2 Group: Structural haemoglobinopathies Subgroup: Other haemoglobin variants Unstable Haemoglobin is a disorder of haemoglobin, a major component of the red blood cells. This abnormal haemoglobin is unstable and the red blood cell lifespan is reduced; it gives anaemia. It is a benign disease. What causes the disease and how common is it?This is a genetic disease. It is linked to a mutation of the Β-globin gene, encoding the ß-globin chain,...
Triose phosphate isomerase deficiency
Acronym: TPI ORPHANET code: 868 OMIM code: 190450 ICD-10 code: D55.2 Group: Red cell enzymopathies TPI is a glycolytic pathway enzymopathy leading to haemolytic anaemia of variable degree which is always associated with severe and progressive neurological degradation , myopathy and increased susceptibility to infection. TPI deficiency is very rare and transmitted in a autosomal recessive mode. What causes the disease and how common is it?This is a genetic disease. It is linked to mutations of the...
SLC25A38-related Sideroblastic anaemia
ORPHANET code: 260305 OMIM code: 610819 Group: Rare iron metabolism related anemias Subgroup: Non syndromic sideroblastic anaemias Non-syndromic congenital sideroblastic anemia (CSA) is characterized by anemia and iron overload of erythroid precursors and other organs and it is due to mutations of at least 3 genes (ALAS2, SLC25A38 and GLRX5). SLC25A38-related CSA is a autosomal recessive sideroblastic anemia due to mutations of the mitochondrial transporter SLC25A38. What causes the disease and how common is it?Non-syndromic CSA...
Sideroblastic anaemia associated with ataxia
ORPHANET code: 2802 OMIM code: 301310 ICD-10 code: D64.3 Group: Rare iron metabolism related anemias Subgroup: Syndromic sideroblastic anaemias Syndromic congenital sideroblastic anaemias (CSA) are a heterogeneous group of anaemic syndromes characterized by the presence of anaemia together with other clinical syndromes. These different entities are due to mutations of nuclear genes or mutations in the mitochondrial DNA. Sideroblastic Anaemia with ataxia (XLSA/A) is an autosomal recessive sideroblastic anaemia due to mutations of the ABCB7 gene. What...
Sickle cell trait
Acronym: HbS tratt Synonym(s): Heterozygous haemoglobin S ORPHANET code: 232 OMIM code: 603903 ICD-10 code: D57.3 Group: Structural haemoglobinopathies Subgroup: Sickle cell disorders ...
Sickle cell anaemia
Acronym: SCA Synonym(s): Drepanocytosis ORPHANET code: 232 OMIM code: 603903 ICD-10 code: D57.0 Include: Only HbS Homozygozity Group: Structural haemoglobinopathies Subgroup: Sickle cell disorders Haemoglobin S and sickle cell disorders: are disorders of the haemoglobin, a major component of the red blood cells. Sickle cell disorders (SCD) are the consequence of the presence of an abnormal haemoglobin called haemoglobin S (Hb S). There are several forms of which the most frequent is due to haemoglobin S homozygosity, while compound...
Severe congenital hypochromic anemia with ringed sideroblasts
ORPHANET code: 300298 OMIM code: 615234 ICD-10 code: D64.0 This disease is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, and increased levels of erythrocyte protoporphyrin. What causes the disease and how common is it?The disease is caused by mutations in the gene STEAP3 (also known as TSAP6) that encodes a ferrireductase involved in the acquisition of iron by developing erythroblasts. So far only one...
Refractory Anaemia (Myelodysplasia)
ORPHANET code: 98826 What causes the disease and how common is it?Refractory Anaemia (RA) is part of the heterogeneous group of diseases that affects normal blood cell production in the bone marrow and a category of myelodysplastic syndrome (MDS) . One example of RA is the 5q-syndrome. In RA, marrow blood cells fail to mature properly and are unable to work properly. They often die before they leave the marrow, or shortly...
Pyruvate kinase deficiency
Acronym: PK ORPHANET code: 766 OMIM code: 266200 ICD-10 code: D55.2 Group: Red cell enzymopathies Pyruvate kinase (PK) is a key regulating enzyme of the glycolytic pathway involved in the production of ATP (metabolic energy). Red blood cell PK deficiency is the most frequent enzyme disorder leading to chronic nonspherocytic haemolytic anaemia. Patients display a highly variable degree of severity. About 200 different gene mutations have been identified for this disorder. PK deficiency is transmitted in...