Genetic haemochromatosis: diagnosing and treating hereditary iron overload.

Abstract

Genetic haemochromatosis (GH) is the most common inherited genetic disorder in caucasians, affecting approximately 1 in every 200–250 people. It leads to an increased absorption and deposition of iron, and if it is untreated it can cause systemic iron overload in some patients. This iron overload can cause inflammation and tissue damage to multiple organs, with the potential to lead to heart disease, diabetes and cirrhosis of the liver. Despite being a common condition, it is thought to be under diagnosed. However, it is known that some patients with a diagnosis of GH will present with cirrhosis at a young age, while others are virtually asymptomatic. Symptoms can be generalised, and diagnosis is made on blood tests. Treatment for GH requires the removal of blood, known as venesection. Approximately 400–500mls are removed at a time, and this procedure can be undertaken weekly until ferritin levels are brought down to 50 µg/l or below.