目的探讨原发性血色病的临床病理特征。方法对1例原发性血色病伴肝癌及肝癌术后复发患者进行临床、病理组织学和特殊染色观察,并结合文献探讨其发病机制、病理形态及鉴别诊断。比较放血疗法治疗前后患者肝铁沉积变化及病理组织学改变。结果原发性血色病为常染色体隐性遗传性铁贮积病,过量铁在肝、胰、心、肾、皮肤及脾等部位广泛沉积,造成靶器官实质细胞破坏,导致脏器功能损害。肝是最早和最严重的铁聚集部位,肝硬化和肝癌是本病的主要致死原因。反复放血排出体内的铁是此病最有效、最经济的治疗方法。结论此病早期无特异表现,极易漏诊,确诊有赖于肝活检的病理诊断。早期诊断、早期治疗可明显延长患者的生存期。 Objective To investigate the clinicopathological features of primary hemochromatosis. Methods One case of primary hemochromatosis with hepatocellular carcinoma (HCC) and recurrence of liver cancer was observed by histopathology, histopathology and special staining. The pathogenesis, pathomorphology and differential diagnosis were also reviewed. The changes of hepatic iron deposition and histopathological changes in patients before and after bloodletting therapy were compared. Results The primary hemochromatosis was autosomal recessive hereditary storage disease. Excessive iron was widely deposited in the liver, pancreas, heart, kidney, skin and spleen, causing destruction of parenchymal cells in the target organs and resulting in organ dysfunction. Liver is the earliest and most severe site of iron accumulation, cirrhosis and liver cancer is the main cause of death of the disease. Repeated bleeding blond discharge of the body is the most effective disease, the most economical treatment. Conclusion The early stage of the disease without specific performance, easily missed diagnosis, diagnosis depends on the pathological diagnosis of liver biopsy. Early diagnosis, early treatment can significantly prolong the survival of patients.