Concise review: Genetic bases for sideroblastic anemia

The best-documented mode of transmission of familial sideroblastic anemia is as an X-linked trait. Mitochondrial mutation has also occasionally been noted in association with sideroblastic anemia, but it is likely to be present more often than has so far been described. It should especially be suspected in cases of inherited multisystem disease, where the pedigrees do not indicate a sex predominance among those affected, and where there is no evidence of transmission by the paternal line. Sporadic cases of sideroblastic anemia may represent mitochondrial mutations either at the germ cell or the somatic cell, and the most sensitive strategy of screening for both would be the study of mitochondrial DNA from circulating erythrocytes. It seems likely that such studies would extend the understanding of mitochondrial function and disease.