All the six patients with SLC40A1 mutations had slightly or moderately increased iron overload, normal hepatic function tests, liver ultrasound and elastography, excluding patient 3 and 5 who showed mild steatosis; patient 3 showed also metabolic abnormalities at diagnosis (high triglycerides and low HDL); patient 5 underwent to liver biopsy that showed normal liver structure, moderate iron overload as assessed by Deugnier’s score [18] with mixed (hepatic and reticuloendothelial cells) hemosiderin iron distribution. The gene discussed is SLC40A1; the disease is Tangier disease.