title: Sideroblastic anemia: diagnosis and management.
abstract: Sideroblastic anemias (SAs) may be acquired or congenital and share the features of disrupted utilization of iron in the erythroblast, ineffective erythropoiesis, and variable systemic iron overload. Congenital forms can have associated syndromic features or be nonsyndromic, and many of them have mutations in genes encoding proteins involved in heme biosynthesis, iron-sulfur cluster biogenesis, or mitochondrial protein synthesis. The mechanism(s) for the acquired clonal SA is undefined and is under intense study. Precise diagnosis of these disorders rests on careful clinical and laboratory evaluation, including molecular analysis. Supportive treatments usually provide for a favorable prognosis and often for normal survival.
authors: Department of Medicine, University of Oklahoma College of Medicine, 755 Research Park, Suite 427, Oklahoma City, OK 73104, USA. Electronic address: sylvia-bottomley@ouhsc.edu.
authors: Sylvia S
authors: SS
authors: Bottomley
authors: Department of Pathology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Bader 124.1, Boston, MA 02115, USA.
authors: Mark D
authors: MD
authors: Fleming
mesh_terms: D000756:Anemia, Sideroblastic / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D019468:Disease Management; D006801:Humans; D019190:Iron Overload / Q000209:etiology
keywords: Heme synthesis; Ineffective erythropoiesis; Iron overload; Iron-sulfur clusters; Mitochondrial iron metabolism; Myelodysplastic syndrome; Ring sideroblasts; Sideroblastic anemia