CONCLUSION
Although it is uncommon, SLC25A38 CSA is a clinically distinctive entity nearly always associated with transfusion-dependent microcytic, hypochromic sideroblastic anemia from infancy. Although it is presently managed in a manner similar to other severe anemias, such as β-thalassemia major, with chronic transfusion and iron chelation, HSCT may be an increasingly attractive option for definitive therapy. Furthermore, as disease-specific metabolic and genetic therapies for rare diseases emerge, SLC25A38 CSA will be increasingly important to distinguish genetically.