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*  Sideroblastic anemia
Congenital sideroblastic anemia X-linked sideroblastic anemia: This is the most common congenital cause of sideroblastic anemia ... congenital sideroblastic anemia, acquired clonal sideroblastic anemia, and acquired reversible sideroblastic anemia. All cases ... Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces ringed sideroblasts rather ... Sideroblastic anemia is typically divided into subtypes based on its cause. Hereditary or congenital sideroblastic anemia may ...
*  List of OMIM disorder codes
SLC25A38 Anemia, sideroblastic, with ataxia; 301310; ABCB7 Anemia, sideroblastic, X-linked; 300751; ALAS2 Angelman syndrome; ... NRAMP2 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; 205950; GLRX5 Anemia, sideroblastic, pyridoxine- ... SCN5A Heinz body anemia; 140700; HBA2 Heinz body anemias, alpha-; 140700; HBA1 Heinz body anemias, beta-; 140700; HBB HELLP ... RPL5 Diamond-Blackfan anemia 7; 612562; RPL11 Diamond-Blackfan anemia 8; 612563; RPS7 Diamond-Blackfan anemia 9; 613308; RPS10 ...
*  ALAS1
2004). "Onset of X-linked sideroblastic anemia in the fourth decade". Haematologica. 89 (10): 1261-3. PMID 15477213. May BK, ... Furuyama K, Sassa S (2002). "Multiple mechanisms for hereditary sideroblastic anemia". Cell. Mol. Biol. (Noisy-le-grand). 48 (1 ...
*  Zinc toxicity
Fiske, D.N. (1994). "Zinc-induced sideroblastic anemia: report of a case, review of the literature, and description of the ... Forman, W.B. (1990). "Zinc abuse: an unsuspected cause of sideroblastic anemia". West J Med. 152: 190-2. PMC 1002314 . PMID ...
*  GLRX5
Mutations in the GLRX5 gene have been associated with sideroblastic anemia, variant glycine encephalopathy (also known as non- ... Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. The GLRX5 gene ... Camaschella C (Oct 2008). "Recent advances in the understanding of inherited sideroblastic anaemia". British Journal of ... "The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload". Blood. 110 (4): 1353-8 ...
*  ALAS2
GeneReviews/NCBI/NIH/UW entry on X-Linked Sideroblastic Anemia and Ataxia Han L, Zhong Y, Huang B, Han L, Pan L, Xu X, Wang X, ... Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants ... and one with sideroblastic anemia and severe iron overload". Blood Cells, Molecules & Diseases. 36 (2): 292-7. doi:10.1016/j. ... "A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia". Clinica Chimica Acta; International ...
*  Copper deficiency
This unusual pattern is also known as ringed sideroblastic anemia cells. The cause of neutropenia is still unclear; however, ... The anemia caused by copper deficiency is thought to be caused by impaired iron transport. Hephaestin is a copper containing ... Anemia and neutropenia typically resolve within six weeks of copper replacement. Copper deficiency can cause a wide variety of ... Another speculation for the cause of anemia is involving the mitochondrial enzyme cytochrome c oxidase (complex IV in the ...
*  Mitochondrial ferritin
2003). "Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia". Blood. 101 (5): 1996- ...
*  Myelodysplastic syndrome
... and a family history may indicate a hereditary form of sideroblastic anemia or Fanconi anemia. MDS most often develops without ... 2003). "Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia". Blood. 101 (5): 1996- ... Other pre-existing bone marrow disorders like acquired aplastic anemia following immunosuppressive treatment and Fanconi anemia ... sideroblastic anemia), Jordans anomaly - vacuolization in all cell lines may be seen in Chanarin-Dorfman syndrome, ...
*  Aminolevulinic acid synthase
One such disease is x-linked sideroblastic anemia which results in the appearance of red blood cells in the bone marrow. This ... 159: 567-8. SIDEROBLASTIC ANEMIAS -ALAS-2 defect disease Molecular and Cellular Biology portal. ... The disease X-linked sideroblastic anemia is caused by mutations in the ALA synthase gene on chromosome X, whereas no diseases ...
*  Pearson syndrome
... is a very rare mitochondrial disorder that is characterized by health conditions such as sideroblastic anemia ... Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other ... The syndrome also leads to anemia, low platelet count, and aplastic anemia It may be confused with transient erythroblastopenia ... "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction ...
*  RNA modification
For example, genetic mutations in pseudouridine synthases cause mitochondrial myopathy, sideroblastic anemia (MLASA) and ... causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303-8. doi: ...
*  ABCB7
GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia ABCB7 protein, human at the US National Library of ... Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia. ABCB7 has been shown to interact with ... Maguire A, Hellier K, Hammans S, May A (2002). "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense ... in X-linked sideroblastic anemia and ataxia (XLSA/A)". Hum. Mol. Genet. 8 (5): 743-9. doi:10.1093/hmg/8.5.743. PMID 10196363. ...
*  X-linked recessive inheritance
... usually causing death in the first years of life X-linked sideroblastic anemia; skin paleness, fatigue, dizziness and enlarged ... Glucose-6-phosphate dehydrogenase deficiency, which causes nonimmune hemolytic anemia in response to a number of causes, most ...
*  SLC25A38
Mutations in this gene can lead to an autosomal recessive form of sideroblastic anemia.. ...
*  PUS1
2005). "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene ... 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". ... lactic acidosis and sideroblastic anaemia (MLASA)". J. Med. Genet. 44 (3): 173-80. doi:10.1136/jmg.2006.045252. PMC 2598032 . ...
*  Pappenheimer bodies
They are seen in diseases such as sideroblastic anemia, hemolytic anemia, and sickle cell disease. They can interfere with ...
*  Cytochrome c oxidase subunit I
1998). "MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase". Eur. J. ... of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia ...
*  SUCLA2
"Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia". The ...
*  List of hematologic conditions
CS1 maint: Multiple names: authors list (link) Sideroblastic Anemias: Anemias Caused by Deficient Erythropoiesis at Merck ... with some form of anemia as their primary diagnosis. A nutritional anemia is a type of anemia that can be directly attributed ... Anemia is the most common disorder of the blood. There are several kinds of anemia, produced by a variety of underlying causes ... Caudill JS, Imran H, Porcher JC, Steensma DP; Imran; Porcher; Steensma (October 2008). "Congenital sideroblastic anemia ...
*  SLC19A2
2010). "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and ... Bay A; Keskin M; Hizli S; Uygun H; Dai A; Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome". Int. J ... GeneReviews/NIH/NCBI/UW entry on Thiamine-Responsive Megaloblastic Anemia or Rogers Syndrome SLC19A2 protein, human at the US ... Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder ...
*  Erythropoietic porphyria
Previously known mutations in the ALAS2 resulted in a loss-of-function mutation causing X-linked sideroblastic anemia. ... There are three types: X-linked sideroblastic anemia or "X-linked dominant erythropoietic protoporphyria", associated with ... Additionally, unlike the other condition the arises out of a mutation of the ALAS2 gene, there is no anaemia. XDEPP is ... "C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or ...
*  Isoniazid
... leading to sideroblastic anemia. People taking isoniazid and acetaminophen are at risk of acetaminophen toxicity. Isoniazid is ... Aplastic anemia, thrombocytopenia, and agranulocytosis due to lack of production of red blood cells, platelets, and white blood ...
*  Zinc protoporphyrin
... lead poisoning iron deficiency sickle cell anemia sideroblastic anemia anemia of chronic disease vanadium exposure ... "Zinc protoporphyrin in the erythrocytes of patients with lead intoxication and iron deficiency anemia". Science. 186 (4167): ...
*  List of diseases (S)
French type Sickle cell anemia Sideroblastic anemia, autosomal Siderosis Siegler-Brewer-Carey syndrome Silengo-Lerone-Pelizzo ...
*  List of ICD-9 codes 280-289: diseases of the blood and blood-forming organs
Sideroblastic anemia (285.1) Acute posthemorrhagic anemia (285.2) Anemia in chronic illness (285.21) Anemia in chronic kidney ... Sickle-cell anemia (283) Acquired hemolytic anemias (283.0) Autoimmune hemolytic anemias Warm autoimmune hemolytic anemia ( ... Iron deficiency anemia, unspecified (281) Other deficiency anemias (281.0) pernicious anemia (281.2) Anemia, folate deficiency ... 280) Iron deficiency anemias (280.0) Iron deficiency anemia secondary to blood loss (chronic) (280.1) Iron deficiency anemia ...