The Hereditary Hemochromatosis Gene and Iron Homeostasis

Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism and represents one of the most common inherited disorders in individuals of Northern European descent with an estimated carrier frequency between 1 in 8 and 1 in 10.1–3 In patients with HH, excessive iron deposition in a variety of organs leads to multiorgan dysfunction.4,5 The symptoms of HH are often similar to other diseases and for this reason, the diagnoses of HH is frequently not made until later in life. HH has commonly been identified with a combination of blood iron measurements and liver biopsy. It has been argued that early detection of the HH and a simple program of therapeutic phlebotomy would be of benefit in preventing the onset of this disease. With the advent of the gene cloning, it is now possible to detect HH with a DNA based test so that diagnosis can be made before the deleterious effects of excess iron are realized.