Multiple mutations in SLC40A1 gene have been described so far [6,7,27]: loss-of-function variants are characterized by diminished cell surface expression, lower iron export capacity, and hyperferritinemia with normal TSAT (Ferroportin disease), while gain-of-function variants are characterized by ferroportin resistance to hepcidin activity resulting in continued iron export and a hemochromatosis-like phenotype (Hemochromatosis type 4) [6,27,28]. The gene discussed is HAMP; the disease is isolated hyperferritinemia.