Imerslund-Gräsbeck-Syndrom
ORPHANET code: 35858 OMIM code: 261100, 602997 ICD-10 code: D51.1 Group: Erythropoietic defects Subgroup: Congenital megaloblastic anemia What causes the disease and how common is it?Cobalamin (Vitamin B12) isvery important for bone marrow functioning and its deficiency is a cause of anaemia. Vitamin B12 has two forms, one of which, along with folate, is important in DNA synthesis.Imerslund–Gräsbeck syndrome(IGS) is aautosomal recessive megaloblastic anemia (MGA1)due to congenital cobalamin malabsorption with vitamin B12 deficiency caused by malfunction...
Hexokinase deficiency
Acronym: HK ORPHANET code: 90031 OMIM code: 235700 ICD-10 code: D55.2 Group: Red cell enzymopathies HK deficiency is a very rare autosomal, recessively inherited enzymopathy associated with severe chronic haemolytic anaemia (CHA). What causes the disease and how common is it?This is a genetic disease. It is linked to mutations of the HK gene, encoding the HK enzyme. These mutations lead to a reduction of HK activity. An individual can be heterozygous for the disorder (healthy carrier),...
Hereditary Stomatocytosis
Acronym: HSt ORPHANET code: 3202, 3203 OMIM code: 194380, 603528, 185000 ICD-10 code: D58.8 Include: Dehydrated hereditary stomatocytosis, overhydrated Group: Congenital Red Cell Membrane defects Hereditary Stomatocytosis comprises two different diseases: the xerocytosis or dehydrated hereditary stomatocytosis and the overhydrated hereditary stomatocytosis. Both are genetic disorders mainly due to abnormality of red cell membrane permeability to monovalent cations (Na+ and K+) resulting in an alteration in the red blood cell water content. Typical red blood cells known...
Hereditary Spherocytosis
Acronym: HS Synonym(s): Minkowski-Chauffard Syndrom ORPHANET code: 822 OMIM code: 182870, 182900, 270970, 612653, 612690 ICD-10 code: D58.0 Include: Autosomal dominant, Autosomal recessive Group: Congenital Red Cell Membrane defects Hereditary Spherocytosis is a genetic disorder affecting the red blood cell membrane resulting in decreased red cell deformability, premature removal from blood circulation, and haemolytic anaemia of variable degree. Accordingly, the disease severity is classified in four categories: asymptomatic state, mild, moderate and severe. What causes the disease and how...
Hereditary persistance of fetal haemoglobin
Acronym: HPFH ORPHANET code: 46532 OMIM code: 141749, 142335, 142470, 305435, 613566 ICD-10 code: D56.4 Group: Thalassaemias Subgroup: Other thalassaemias ...
Hereditary Elliptocytosis
Acronym: HE ORPHANET code: 98864, 98865, 286 OMIM code: 109270, 130600, 141700, 166900, 166910, 179650, 225450, 235370, 266140, 611804 ICD-10 code: D58.1 Include: Common, Autosomal dominant, Homozygous Group: Congenital Red Cell Membrane defects Hereditary elliptocytosis and hereditary pyropoikilocytosis are two variant forms of the same disease and differ in their severity and frequency. Both are genetic disorders affecting the red blood cell membrane resulting in decreased red cell deformability and mechanical stability, premature removal from blood circulation,...
Haemoglobin M with anaemia
Acronym: HbM ORPHANET code: 330041 ICD-10 code: D74.0 Group: Structural haemoglobinopathies Subgroup: Other haemoglobin variants Haemoglobin M with anaemia 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 cyanosis (blue color) and 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...
Haemoglobin Lepore
Acronym: HbLepore ORPHANET code: 330032 Group: Thalassaemias Subgroup: Delta beta thalassaemia Is a disorder of haemoglobin, a major component of the red blood cells. This abnormal haemoglobin is produced at a reduced rate. It might be a benign disease or result in a severe anaemia. See also the term: Β-thalassemic syndromes What causes the disease and how common is it?This is a genetic disease. It resulted from a "patchwork" between the delta and beta globin genes. An...
Haemoglobin H disease
ORPHANET code: 846 OMIM code: 141800, 604131 ICD-10 code: D56.0 Group: Thalassaemias Subgroup: Alpha thalassaemia Haemoglobin H disease is a disorder of haemoglobin, a major component of the red blood cells. Haemoglobin is produced at a reduced rate. It is a relatively benign disease. What causes the disease and how common is it?This is a genetic disease. It is linked to a decreased expression of three of the four α-globin genes, encoding the α-globin chains, one of...
Haemoglobin E disease
Acronym: HbE ORPHANET code: 2133 ICD-10 code: D58.2 Group: Structural haemoglobinopathies Subgroup: Thalassaemic haemoglobinopathies Haemoglobin E is a disorder of haemoglobin, a major component of the red blood cells. This abnormal haemoglobin is produced at a reduced rate. It is most often a benign disease. See also the term: “Beta-thalassaemia”. 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,...