The Haemochromatosis

Haemochromatosis is one of the most common genetic diseases affecting patients of northern European ancestry. It is overdiagnosed in patients without iron overload and is underdiagnosed in many patients. Early diagnosis by genetic testing and therapy by periodic phlebotomy can prevent the most serious complications, which include liver cirrhosis, liver cancer, and death. This Seminar includes an update on the origins of haemochromatosis; and an overview pathophysiology, genetics, natural history, signs and symptoms, differential diagnoses, treatment with phlebotomy, outcomes, and future directions.

Automated summary

Haemochromatosis is a common genetic disease in patients of northern European ancestry. It is often misdiagnosed in patients without iron overload and underdiagnosed in many patients. Early diagnosis through genetic testing and treatment with periodic phlebotomy can prevent serious complications such as liver cirrhosis, liver cancer, and death. This Seminar provides an update on the origins of haemochromatosis and covers pathophysiology, genetics, natural history, signs and symptoms, differential diagnoses, treatment with phlebotomy, outcomes, and future directions.