Hemochromatosis

Hereditary hemochromatosis is an autosomal-recessive HFE (C282Y) defect causing excessive intestinal iron absorption and iron deposition in liver, pancreas, heart, joints, and skin. Clinical: fatigue, cirrhosis/hepatocellular-carcinoma risk, diabetes (bronze diabetes), skin pigmentation, cardiomyopathy/arrhythmia, arthropathy, hypogonadism. Diagnosis by elevated transferrin saturation/ferritin and HFE genotyping. Treatment: regular therapeutic phlebotomy; manage complications.

Common Symptoms

Fatigue; cirrhosis; diabetes; skin pigmentation; cardiomyopathy; arthropathy; hypogonadism; elevated ferritin/transferrin saturation

Causes and Pathogenesis

HFE mutation causes hepcidin deficiency and excessive intestinal iron absorption; iron-catalyzed free-radical damage accumulates in organs.

Treatment

Regular therapeutic phlebotomy; iron-chelation when phlebotomy not tolerated; manage cirrhosis/diabetes/cardiomyopathy; family screening

Preventive Measures

Family screening; early phlebotomy; avoid iron supplements/alcohol; hepatocellular-carcinoma surveillance in cirrhosis.

Department to Visit

It is recommended to visit the Gastroenterology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.