In patients with very low Hb concentrations (7.36 ± 1.57 g/dL) and very high ferritin and iron levels (3068.7 ± 2826.0 ng/mL and 40.4 ± 26.3 mol/L, respectively), the anaemia and iron overload were associated with reduced hepcidin levels (<0.5 ng/mL) and a significant increase in WBC and PLT counts compared to patients with other mutations. The gene discussed is HAMP; the disease is anemia.