A case report of hereditary hemochromatosis caused by mutation of SLC40A1 gene

RATIONALE: Hereditary hemochromatosis (HH) is a frequent autosomal recessive disease. The pathogenesis of disease is excessive intestinal absorption of dietary iron, resulting in pathologically high iron storage in tissues and organs. As a systemic disease, it has several manifestations including cirrhosis, diabetes mellitus, cardiomyopathy, joint disease. However, a proportion of patients are asymptomatic. PATIENT CONCERNS: A 34-year-old man who had abnormal liver function for 9 months without specific symptoms. He underwent various tests, including liver biopsy and genetic testing, which eventually ruled out common liver diseases and identified iron metabolic abnormalities. In addition, we confirmed the pathogenic genes by sequencing the genes of him and his families. DIAGNOSIS: Combined with the symptoms, auxiliary examinations and sequencing results, the patient was diagnosed as HH. INTERVENTIONS: The patient was given a low iron diet and phlebotomy therapy interval 2 weeks until the ferritin is <100 mg/L. OUTCOMES: The patient’ condition is stable during the follow-up period. LESSONS: When clinicians are confronted with unexplained liver dysfunction, the possibility of the HH should be considered. Liver biopsy and gene sequencing are helpful in diagnosis. Phlebotomy treatment is the most economical and practical treatment for HH at present, but it should vary from person to person.