Congenital sideroblastic anemias

Abstract

Congenital forms of sideroblastic anemia constitute a subset of uncommon disorders within the wider spectrum of sideroblastic anemias, all of which are diagnosed by the presence of pathologic iron deposits in erythroblast mitochondria. The congenital sideroblastic anemias are heterogeneous disorders; some arise from known molecular defects but others are diagnosed only by their clinical features. Elucidation of several of the underlying defects has advanced our understanding of heme biosynthesis and iron metabolism in the erythroid cell. With the details of the porphyrin synthetic pathway clarified, now the important frontier of research is investigation of the mechanisms of mitochondrial and cellular iron homeostasis and their relationship to the regulation of heme biosynthesis. Knowledge gained from efforts in this area of study may also provide new approaches to treatments, which remain largely supportive for most types of congenital sideroblastic anemia.