Sideroblastic anemia

Definition

A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.

Also known as anaemia sideroblastic, anemia sideroblastic, sideroblastic anemia — per MONDO

Also identified as

• DOID 8955 per MONDO
• ICD9 285.0 per MONDO
• MESH D000756 per MONDO
• NCIT C36078 per MONDO
• Orphanet 1047 per MONDO
• SCTID 41841004 per MONDO
• UMLS C0002896 per MONDO

Drugs indicated