血色病(hemochromatosis)为一罕见代谢病,由于过多的铁质沉着在实质细胞内引起细胞损伤和组织纤维化。虽然血色病最多累及的器官为肝、皮肤和胰腺,但其他器官包括心脏、脾、胃肠道、内分泌腺,中枢神经系统和骨骼也可受累。临床上典型表现为五大特征:色素沉着、肝肿大和肝硬化、糖尿病、心脏病变及关节病变,近几年来,文献报道明显增多。为 Hemochromatosis is a rare metabolic disease that causes cell damage and tissue fibrosis in parenchymal cells due to excessive iron deposition. Although most of the organs covered by hemochromatosis are the liver, skin and pancreas, other organs including the heart, spleen, gastrointestinal tract, endocrine glands, central nervous system and bone may also be involved. Typical clinical manifestations of five major features: pigmentation, hepatomegaly and cirrhosis, diabetes, heart disease and joint disease, in recent years, the literature reported significantly increased. for