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Congenital dyserythropoietic anaemia type III

Acronym: CDA III ORPHANET code: 98870 OMIM code: 105600 ICD-10 code: D64.4 Group: Erythropoietic defects Subgroup: Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia type III (CDA III) is a very rare condition which has been observed in very few families in the world. What causes the disease and how common is it?This is a genetic disease, with two large families in North-Sweden and California.What are the most frequent symptoms if I have the disease?Less normal red cells are...

Congenital dyserythropoietic anaemia type II

Acronym: CDA II ORPHANET code: 98873 OMIM code: 224100 ICD-10 code: D64.4 Group: Erythropoietic defects Subgroup: Congenital dyserythropoietic anemia Congenital dyserythropoietic anaemia type II (CDA II) is a disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells (RBCs). What causes the disease and how common is it?This is a genetic disease. It is linked to a mutation of a gene, which regulates the proliferation, maturation and...

Congenital dyserythropoietic anaemia type I

Acronym: CDA I ORPHANET code: 98869 OMIM code: 224120 ICD-10 code: D64.4 Group: Erythropoietic defects Subgroup: Congenital dyserythropoietic anemia Congenital dyserythropoietic anaemia type I (CDA I) is a disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells (RBCs). What causes the disease and how common is it?This is a genetic disease. It is linked to a mutation of the gene(s), which regulate the proliferation and maturation...

Compound heterozygous sickling disorders

Acronym: SCD Synonym(s): Drepanocytosis ORPHANET code: 232 OMIM code: 603903 ICD-10 code: D57.2 Include: Hb S/C; Hb S/D; Hb S/E; Hb S/beta thal Group: Structural haemoglobinopathies Subgroup: 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...

Beta-thalassaemia major (and intermedia)

Synonym(s): Cooley's anaemia ORPHANET code: 848 OMIM code: 141900, 604131 ICD-10 code: D56.3 Group: Thalassaemias Subgroup: Beta thalassaemia Beta-thalassaemia major (intermedia) is a disorder of haemoglobin, a major component of the red blood cells. Haemoglobin is produced at a reduced rate. It is a severe disease. What causes the disease and how common is it?This is a genetic disease. It is linked to a decreased expression of two of the Β-globin genes, encoding the Β-globin chains, one...

Beta-thalassaemia – trait or carrier

ORPHANET code: 848 OMIM code: 141900, 604131 ICD-10 code: D56.3 Group: Thalassaemias Subgroup: Beta thalassaemia Beta-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 of...

Autoimmune Haemolyitic Anaemia

ORPHANET code: 98375 ICD-10 code: D59.0 D59.1 Group: Acquired hemolytic anemia What causes the disease and how common is it?Autoimmune hemolytic anèmia (AIHA) or immunohaemolytic anaemia (IHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to anaemia of variable severity. This happens because the immune system mistakenly recognizes these blood cells as foreign.The intracellular components of the RBCs are released into the circulating...

Atypical hemolytic uremic syndrome

ORPHANET code: 2134 ICD-10 code: D58.8 Group: Acquired hemolytic anemia What causes the disease and how common is it?Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening, genetic disease. aHUS can damage vital organs such as the kidneys, heart and brain Although aHUS does affect children, almost one-half of people affected are adults. aHUS results from changes, or mutations in the genes that produce proteins that help control the complement system which is...

Atransferrinemia

ORPHANET code: 1195 OMIM code: 209300 ICD-10 code: D50.8 Group: Rare iron metabolism related anemias Subgroup: Non sideroblastic anaemia Atransferrinemia is an autosomal recessive condition that leads to a strong reduction of transferrin, the protein that transports iron in the blood circulation. Affected subjects show severe anemia and iron overload. What causes the disease and how common is it?This is an extremely rare genetic disease. It is linked to mutations of the TF gene that encodes...