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Haemoglobin C disease

Acronym: HbC Synonym(s): ATMDS, Acquired HbH disease, Acquired hemoglobin H disease ORPHANET code: 2132 ICD-10 code: D58.2 Group: Structural haemoglobinopathies Subgroup: Other haemoglobin variants Is a disorder of haemoglobin, a major component of the red blood cells. This abnormal haemoglobin precipitates in red blood cells to form crystals. 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 b-globin gene, encoding the...

Glutathione synthetase deficiency

Acronym: GS ORPHANET code: 32 OMIM code: 231900 ICD-10 code: D55.1 Group: Red cell enzymopathies GSH plays an important role in biological functions, including synthesis of proteins and DNA and anti-oxidants detoxification. GS deficiency is an autosomal recessive genetic defect associated with chronic haemolytic anaemia, neurological disorder and metabolic acidosis. What causes the disease and how common is it?This is a genetic disease. It is linked to mutations of the GS gene, encoding the GS enzyme. These...

Glutathione reductase deficiency

Acronym: GR ORPHANET code: 90030 OMIM code: 138300 ICD-10 code: D55.1 Group: Red cell enzymopathies GR deficiency is an autosomal recessive genetic disorder. Congenital GR deficiency is associated with acute haemolytic crisis after oxidant drugs of fava beans ingestion (favism). In the only three cases so far reported, favism is always associated with cataracts. What causes the disease and how common is it?This is a very rare genetic disease. It is linked to mutations of the GR...

Glucose-6-phosphate dehydrogenase deficiency

Acronym: G6PD ORPHANET code: 362 OMIM code: 305900 ICD-10 code: D55.0 Group: Red cell enzymopathies G6PD is the most frequent enzymopathy in human beings. G6PD is essential for the maintenance of adequate amounts of reduced glutathione (GSH) that prevents RBC from oxidative damage. This enzymopathy is symptomless until the patient is exposed to oxidant substances such as some drugs (for example anti-malarial medication) or fava beans (favism). What causes the disease and how common is it?G6PD deficiency...

Glucose phosphate isomerase deficiency

Acronym: GPI ORPHANET code: 712 OMIM code: 613470 ICD-10 code: D55.2 Group: Red cell enzymopathies Is an enzyme of the glycolytic pathway necessary for normal RBC survival. GPI deficiency is the second most common red blood cell glycolytic enzymopathy after pyruvate kinase (PK) deficiency, and approximately 50 different cases have been described to date. GPI deficiency is an autosomal recessive genetic disorder associated with mild to severe chronic hemolytic anemia in homozygotes or compound heterozygotes. What causes...

GLRX5-related Sideroblastic anaemia

Acronym: GCS ORPHANET code: 33574 OMIM code: 230450 ICD-10 code: D55.1 Group: Red cell enzymopathies 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). GLRX5-related CSA is an autosomal recessive sideroblastic anemia due to mutations of the mitochondrial enzyme GLRX5. What causes the disease and how common is it?Non-syndromic CSA is a rare...

Fanconi anaemia

Acronym: FA ORPHANET code: 84 OMIM code: 227645 227646, 227650, 300514, 600901, 602956, 603467, 605724, 608111, 609053, 609054, 610832, 613390 ICD-10 code: D61.0 Group: Erythropoietic defects Subgroup: Aplastic anaemia Fanconi anemia (FA) it is a chromosome fragility syndrome characterized by progressive bone marrow failure (BMF), malformations and cancer predisposition, especially acute mieloid leukaemia (AML) and head and neck carcinoma. There are several subtypes with variable clinical phenotype, age of onset of cancer and BMF and cancer spectrum. What causes the disease and how common is it?FA is a genetic disease with...

DMT1- deficiency anaemia

ORPHANET code: 83642 OMIM code: 206100 ICD-10 code: D50.8 Group: Rare iron metabolism related anemias Subgroup: Non sideroblastic anaemia Divalent metal transporter 1 (DMT1) is a duodenal apical iron transporter encoded by the SLC11A2 gene. Mutations in SLC11A2 leads to an anemia-iron overload syndrome transmitted as an autosomal recessive trait. What causes the disease and how common is it?This is a rare genetic disease caused by mutations in the SLC11A2 gene, encoding the DMT1 iron transporter....

Diamond- Blackfan-Anemia

Acronym: DBA ORPHANET code: 124 OMIM code: 105650, 606129, 606164, 610629, 612527, 612528, 612561, 612562, 612563, 613308, 613309 ICD-10 code: D61.0 Group: Erythropoietic defects Subgroup: Congenital pure red cell aplasia What causes the disease and how common is it?Diamond–Blackfananemia (DBA) is a kind of arregenerativeanemia due to decreased erythroid progenitors in the bone marrow. This usually develops during the neonatal period and. DBA patients have a modest risk of developing leukemia and other malignancies. With the exception of DBA rarely arising from mutation of transcription factor GATA1,(add...

Delta Beta-thalassaemia

ORPHANET code: 231237 OMIM code: 604131 ICD-10 code: D56.2 Group: Thalassaemias Subgroup: Delta beta thalassaemia Delta Beta-thalassaemia: is a disorder of haemoglobin, a major component of the red blood cells. Haemoglobin is produced at a reduced rate. One can be a carrier and in this case it is a benign disease close the Β-thalassemia –trait or carrier and should be distinguished from an iron deficiency. One can have a disease close to the clinical picture...