Haemochromatosis is characterised by elevated transferrin saturation (TSAT) and progressive iron loading that mainly affects the liver. Early diagnosis and treatment by phlebotomy can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy and other complications. In patients homozygous for p.Cys282Tyr in HFE, provisional iron overload based on serum iron parameters (TSAT >45% and ferritin >200 μg/L in females and TSAT >50% and ferritin >300 μg/L in males and postmenopausal women) is sufficient to diagnose haemochromatosis. In patients with high TSAT and elevated ferritin but other HFE genotypes, diagnosis requires the presence of hepatic iron overload on MRI or liver biopsy. The stage of liver fibrosis and other end-organ damage should be carefully assessed at diagnosis because they determine disease management. Patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma. Treatment targets for phlebotomy are ferritin <50 μg/L during the induction phase and <100 μg/L during the maintenance phase.

血色素沉着症的特点是转铁蛋白饱和度 (TSAT) 升高和进行性铁负荷增加，主要影响肝脏。早期诊断和放血治疗可以预防肝硬化、肝细胞癌、糖尿病、关节病等并发症。在 HFE 中 p.Cys282Tyr 纯合子患者中，基于血清铁参数的临时铁超负荷（女性 TSAT >45% 且铁蛋白 >200 μg/L，男性和绝经后女性 TSAT >50% 且铁蛋白 >300 μg/L）足以诊断血色病。对于 TSAT 和铁蛋白升高但具有其他HFE基因型的患者，诊断需要 MRI 或肝活检显示肝铁过载。诊断时应仔细评估肝纤维化和其他终末器官损伤的阶段，因为它们决定疾病的治疗。晚期纤维化患者应纳入肝细胞癌筛查计划。放血治疗的目标是诱导阶段铁蛋白<50 μg/L，维持阶段铁蛋白<100 μg/L。