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.