Albertine Donker

Rare Inherited Iron and Heme-related Anemias 115 3 Table 1. Continued 2 C. Sideroblastic anemia due to defects in STEAP3 Clinical presentation and diagnosis • In patients with unexplained hypochromic sideroblastic anemia with low or normal MCV defects in the STEAP3 gene should be considered. • In case of the combination of hypochromic anemia and gonadal dysfunction, STEAP3 defects should be considered. Treatment • Patients with hypochromic anemia due to STEAP3 defects can be treated with erythrocyte transfusions in combination with EPO. Systemic iron loading should be treated with iron chelation. Family screening* • Since sideroblastic anemia due to a STEAP3 defect has been described in only 1 family, the inheritance pattern is uncertain and the proband should be referred to a clinical geneticist. Part 3: Defects in the heme and/or iron sulphur cluster synthesis. 3A. Sideroblastic anemia due to defects in SLC25A38 Clinical presentation and diagnosis • In children with severe unexplained microcytic sideroblastic anemia defects in SLC25A38 should be considered. Treatment • Hematopoietic stem cell transplantation (HSCT) is recommended since this is the only curative option. • Symptomatic treatment consists of erythrocyte transfusions and chelation therapy. Family screening* • Recommendations are identical to those described in 1C.