Wednesday, August 20, 2008 - 4:02AM EST

Introduction to Hereditary Hemochromatosis

What is Hereditary Hemochromatosis?

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 leading to potentially serious diseases including:

  • Cirrhosis of the liver - a risk factor for developing hepatocellular carcinoma (primary liver cancer)
  • Liver failure
  • Arthritis
  • Hypogonadism - underactive sex organs
  • Diabetes
  • Arrhythmias - irregular heart beats
  • Congestive heart failure

The severity, frequency, and iron accumulation rate in patients with hemochromatosis varies widely and is related to several factors, including:

  • Age - hereditary hemochromatosis is typically associated with middle age
  • Gender - males are typically diagnosed with hereditary hemochromatosis at an earlier age than females, since menstruation provides a natural avenue of blood loss thereby reducing iron stores
  • Dietary habits - such as alcohol consumption, use of vitamin C and iron supplements
  • Pattern of genetic mutations (e.g. heterozygous, homozygous)
  • Presence of other diseases (co-morbid conditions)