Hyperferritinemia with iron overload includes hemochromatosis (HH) due to mutation in HFE, HJV, HAMP, TFR2 and SLC40A1 gain-of-function mutations, hereditary iron loading anemias, and hypo-transferrinemia that are characterized by high TSAT [2]. Here, SLC40A1 is linked to isolated hyperferritinemia.