Sideroblastic anemia classification: Difference between revisions
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==Overview== | ==Overview== | ||
sideroblastic anemia may be classified according to its [[etiology]] into two groups, [[congenital]] and [[acquired]]. Congenital catagory include [[X-linked]], [[autosomal]] and [[mitochondrial]]DNA defects. Acquired sideroblastic anemias is divided in to 2 catogries, [[acquired]] reversible and [[acquired]] clonal. Sideroblastic anemias secondry to alcohol ingestion,drugs like [[isoniazid]] and [[chloramphenicol]], comes under the catagory of acquired reversible sideroblastic anemia. [[Copper]] and [[vitamin B6]] deficiency also causes acquired reversible sideroblastic anemias. Acquired clonal sideroblastic anemias include [[refractory]] anaemia with ring sideroblasts (RARS) refractory anaemia with multilineage dysplasia and ring sideroblasts (RCMD) and refractory [[anaemia]] with ring sideroblasts and [[thrombocytosis]] (RARS-T). sideroblastic anemia can be divided according to MCV [[mean corpuscular volume]] in to two catogries, MCV decreased and MCV normal or increased. X linked sideroblastic anemia in males, X linked sideroblastic anemia with [[ataxia]], and [[autosomal recessive]] congenital sideroblastic anemia (ARCSA) present with low MCV. [[Isoniazid]] also causes low MCV. [[Alcoholism]], copper defeciency, [[X linked]] sideroblastic anemia in females and pearson marrow-pancreas syndrome will show either high or normal MCV. | |||
==Classification== | ==Classification== | ||
Sideroblastic anemia may be classified according to its etiology into two groups: | Sideroblastic anemia may be classified according to its etiology into two groups:<ref name="pmid24003969">{{cite journal |vauthors=Fujiwara T, Harigae H |title=Pathophysiology and genetic mutations in congenital sideroblastic anemia |journal=Pediatr Int |volume=55 |issue=6 |pages=675–9 |date=December 2013 |pmid=24003969 |doi=10.1111/ped.12217 |url=}}</ref><ref name="pmid21632840">{{cite journal |vauthors=Cazzola M, Invernizzi R |title=Ring sideroblasts and sideroblastic anemias |journal=Haematologica |volume=96 |issue=6 |pages=789–92 |date=June 2011 |pmid=21632840 |pmc=3105636 |doi=10.3324/haematol.2011.044628 |url=}}</ref> | ||
* Congenital | * Congenital | ||
* Acquired | * Acquired | ||
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|X-linked | |X-linked | ||
|X-linked sideroblastic anaemia (XLSA) | |X-linked sideroblastic anaemia (XLSA) | ||
X-linked sideroblastic | X-linked sideroblastic [[anemia]] with [[ataxia]] (XLSA/A) | ||
|- | |- | ||
|Autosomal | |Autosomal | ||
|Glutaredoxin-5 deficiency | |Glutaredoxin-5 deficiency | ||
Thiamine-responsive megaloblastic anaemia (TRMA) | [[Thiamine]]-responsive [[megaloblastic anaemia]] (TRMA) | ||
Associated with erythropoietic protoporphyria (EPP) | Associated with [[erythropoietic protoporphyria]] (EPP) | ||
Myopathy | [[Myopathy]] [[lactic acidosis]] and sideroblastic anaemia (MLASA) | ||
|- | |- | ||
|Mitochondrial DNA | |Mitochondrial DNA | ||
|Pearson syndrome | |[[Pearson syndrome]] | ||
|} | |} | ||
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|Alcoholism | |Alcoholism | ||
Drugs (chloramphenicol, isoniazid) | Drugs [[Chloramphenicol|(chloramphenicol]], [[isoniazid]]) | ||
Copper deficiency (nutritional, zinc-induced, copper chelation) | [[Copper deficiency]] (nutritional, zinc-induced, copper chelation) | ||
Vit B-6 deficiency | Vit B-6 deficiency | ||
|- | |- | ||
|Acquired clonal SA | |Acquired clonal SA | ||
|Refractory anaemia with ring sideroblasts (RARS) | |Refractory [[Anemia|anaemia]] with ring sideroblasts (RARS) | ||
Refractory anaemia with multilineage dysplasia and ring sideroblasts (RCMD) | Refractory [[Anemia|anaemia]] with multilineage [[dysplasia]] and ring sideroblasts (RCMD) | ||
Refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) | Refractory [[Anemia|anaemia]] with ring sideroblasts and [[thrombocytosis]] (RARS-T) | ||
|} | |} | ||
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|- | |- | ||
|Isoniazid | |Isoniazid | ||
|Alcoholism | |[[Alcoholism]] | ||
|- | |- | ||
|X-linked sideroblastic anemia (XLSA) in males | |X-linked sideroblastic [[anemia]] (XLSA) in males | ||
|Copper deficiency | |[[Copper deficiency]] | ||
|- | |- | ||
|Autosomal recessive congenital sideroblastic anemia (ARCSA) | |Autosomal recessive congenital sideroblastic anemia (ARCSA) | ||
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|X-linked MLASA varian | |X-linked MLASA varian | ||
|- | |- | ||
|Erythropoietic protoporphyria (EPP) | |[[Erythropoietic protoporphyria]] (EPP) | ||
|Pearson marrow-pancreas syndrome | |Pearson marrow-pancreas syndrome | ||
|- | |- | ||
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{{WS}} | {{WS}} | ||
[[Category:Up-To-Date]] | |||
[[Category:Medicine]] | |||
[[Category:Hematology]] | [[Category:Hematology]] | ||
Latest revision as of 00:11, 30 July 2020
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Sideroblastic anemia Microchapters |
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Sideroblastic anemia classification On the Web |
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Risk calculators and risk factors for Sideroblastic anemia classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Nazia Fuad M.D.
Overview
sideroblastic anemia may be classified according to its etiology into two groups, congenital and acquired. Congenital catagory include X-linked, autosomal and mitochondrialDNA defects. Acquired sideroblastic anemias is divided in to 2 catogries, acquired reversible and acquired clonal. Sideroblastic anemias secondry to alcohol ingestion,drugs like isoniazid and chloramphenicol, comes under the catagory of acquired reversible sideroblastic anemia. Copper and vitamin B6 deficiency also causes acquired reversible sideroblastic anemias. Acquired clonal sideroblastic anemias include refractory anaemia with ring sideroblasts (RARS) refractory anaemia with multilineage dysplasia and ring sideroblasts (RCMD) and refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T). sideroblastic anemia can be divided according to MCV mean corpuscular volume in to two catogries, MCV decreased and MCV normal or increased. X linked sideroblastic anemia in males, X linked sideroblastic anemia with ataxia, and autosomal recessive congenital sideroblastic anemia (ARCSA) present with low MCV. Isoniazid also causes low MCV. Alcoholism, copper defeciency, X linked sideroblastic anemia in females and pearson marrow-pancreas syndrome will show either high or normal MCV.
Classification
Sideroblastic anemia may be classified according to its etiology into two groups:[1][2]
- Congenital
- Acquired
| Congenital sideroblastic anaemias | |
|---|---|
| X-linked | X-linked sideroblastic anaemia (XLSA) |
| Autosomal | Glutaredoxin-5 deficiency
Thiamine-responsive megaloblastic anaemia (TRMA) Associated with erythropoietic protoporphyria (EPP) Myopathy lactic acidosis and sideroblastic anaemia (MLASA) |
| Mitochondrial DNA | Pearson syndrome |
| Acquired sideroblastic anaemias | |
|---|---|
| Acquired reversible SA | Alcoholism
Drugs (chloramphenicol, isoniazid) Copper deficiency (nutritional, zinc-induced, copper chelation) Vit B-6 deficiency |
| Acquired clonal SA | Refractory anaemia with ring sideroblasts (RARS)
Refractory anaemia with multilineage dysplasia and ring sideroblasts (RCMD) Refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) |
sideroblastic anemias can be subdivided according to red blood cell size (microcytic or normocytic-to-macrocytic)
| MCV decreased | MCV normal or increased |
|---|---|
| Isoniazid | Alcoholism |
| X-linked sideroblastic anemia (XLSA) in males | Copper deficiency |
| Autosomal recessive congenital sideroblastic anemia (ARCSA) | X-linked sideroblastic anemia (XLSA) in females |
| SIFD (ARCSA with immunodeficiency) | X-linked MLASA varian |
| Erythropoietic protoporphyria (EPP) | Pearson marrow-pancreas syndrome |
| X-linked sideroblastic anemia with ataxia | TRMA |
| MDS-RS-SLD | |
| MDS-RS-MLD | |
| MDS/MPN-RS-T |
MCV: mean corpuscular volume; XLSA: X-linked sideroblastic anemia; ARCSA: autosomal recessive congenital sideroblastic anemia; SIFD: sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay; MLASA: myopathy, lactic acidosis, and sideroblastic anemia; TRMA: thiamine-responsive megaloblastic anemia; MDS-RS-SLD: myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia; MDS-RS-MLD: myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia; MDS/MPN-RS-T: myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis
References
- ↑ Fujiwara T, Harigae H (December 2013). "Pathophysiology and genetic mutations in congenital sideroblastic anemia". Pediatr Int. 55 (6): 675–9. doi:10.1111/ped.12217. PMID 24003969.
- ↑ Cazzola M, Invernizzi R (June 2011). "Ring sideroblasts and sideroblastic anemias". Haematologica. 96 (6): 789–92. doi:10.3324/haematol.2011.044628. PMC 3105636. PMID 21632840.