关键词: 血色病, 临床特征, 影像学, 基因检测, 诊断

Abstract: Objective The purpose of this study was to summarize the clinical features of patients with hemochromatosis (HC). Methods Eight patients with HC were included in this retrospective study, and the patients were encountered in our hospital from 2012 to 2022. We presented the clinical symptoms, sign, iron biochemical tests, abdominal imaging, histopathology by liver biopsies and gene sequencing. Results All th eight patients were male, and three of them were diagnosed as hereditary hemochromatosis (HHC) and other five cases were with secondary hemochromatosis (SHC); fatigue, hepatosplenomegaly and skin pigmentation were common; out of the eight patients, the cirrhosis was found in five cases, diabetes in two and polyarthritis in one case; five patients had an elevated serum iron levels, all eight patients had an elevated transferrin saturation and serum ferritin levels; the liver biopsy and abdominal imaging showed excessive hepatic iron deposition in all the patients; three patients had gene mutation analysis supporting the diagnosis of HHC; the pricking blood therapy or deferrization therapy was the main management, and one patient had improved convalescence, one lost, one died and five had relatively stable diseases in our series. Conclusion The HC is a relatively uncommon entity in our country, and liver biopsies and gene sequencing might help make the diagnosis clear in patients with cryptogenic liver injuries.

Key words: Hemochromatosis, Clinical feature, Imaging, Gene sequencing, Diagnosis