Sideroblastic anemia classification: Difference between revisions
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Thiamine-responsive megaloblastic anaemia (TRMA) | Thiamine-responsive megaloblastic anaemia (TRMA) | ||
Associated with erythropoietic protoporphyria (EPP) | Associated with [[erythropoietic protoporphyria]] (EPP) | ||
M,yopathy lactic acidosis and sideroblastic anaemia (MLASA) | |||
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|Mitochondrial DNA | |Mitochondrial DNA |
Revision as of 19:54, 8 August 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Nazia Fuad M.D.
Overview
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)
X-linked sideroblastic anaemia with ataxia (XLSA/A) |
Autosomal | Glutaredoxin-5 deficiency
Thiamine-responsive megaloblastic anaemia (TRMA) Associated with erythropoietic protoporphyria (EPP) M,yopathy 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.