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.

Keywords: Heme synthesis; Ineffective erythropoiesis; Iron overload; Iron-sulfur clusters; Mitochondrial iron metabolism; Myelodysplastic syndrome; Ring sideroblasts; Sideroblastic anemia.