What is hereditary hemochromatosis?
Hereditary hemochromatosis is a genetic disease that is the result of inheriting two defective copies of a particular gene, one from each parent. The mutation in this gene causes the intestine to absorb too much iron. Over time, usually several years, this excess iron is deposited in the cells of the liver, heart, pancreas, joints, and pituitary gland. If left untreated, organ damage can result.
• Hereditary Hemochromatosis: A genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. There are 4 types of hemochromatosis and they are distinguished by age of onset, genetic cause and type of inheritance. Some sufferers may be asymptomatic. Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Hereditary Hemochromatosis as a “rare disease”.
Hereditary hemochromatosis is a genetic disorder and is one of a group of conditions known as iron-overload diseases. In patients with hereditary hemochromatosis, the intestines absorb too much iron from food that is ingested. The excess iron is distributed throughout the body and slowly accumulates in the major organs, ultimately resulting in organ malfunction if left untreated. Classic biochemical features of hemochromatosis include both elevated serum ferritin levels and elevated serum transferrin saturation percentage. While hemochromatosis is not curable, the good news is that early diagnosis and treatment can effectively reduce the body’s iron overload, prevent organ damage, and enable patients to lead normal and productive lives. Even if organ damage has already occurred, the initiation of treatment usually prevents further progression of complications. If left untreated, there is progressive accumulation of iron in the liver, pancreas, heart, joints, and the pituitary gland lea
