Sideroblastic anemia classification
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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:
- Congenital
- Acquired
Congenital sideroblastic anaemias | |
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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) Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) |
Mitochondrial DNA | Pearson syndrome |
Acquired sideroblastic anaemias | |
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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 |
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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