Saturday, September 6, 2008 - 2:44PM EST

Introduction to Hereditary Hemochromatosis

Iron (Fe) is a naturally occurring element in our environment that is essential for the formation of red blood cells. A well-balanced daily diet contains about 10 to 20 milligrams (mg) of iron of which the body absorbs approximately 1 to 2 mg per day (approximately 10% of dietary intake) while the remainder passes through the digestive tract and is excreted. It is interesting to note that the human body also eliminates about 1 to 2 mg of iron daily through perspiration, sloughed off dead skin, hair, and fingernails so that a delicate balance (homeostasis) normally exists between the amount of iron that is absorbed into the blood and the amount that is eliminated. Homeostasis is entirely regulated by intestinal absorption of iron. The human body has no mechanism for getting rid of excess iron that has been absorbed into the bloodstream other than via blood loss (e.g., menstruation).

Any process that alters the body's normal intake or absorption of iron can lead to potentially serious disease. Lack of sufficient iron in the body (iron deficiency) can lead to a condition called anemia that can make a person feel weak and tired. Conversely, if the body absorbs and stores too much iron, it can lead to a condition called iron-overload disease which can not only cause generalized weakness and fatigue but can also damage vital organs such as the liver, heart, and pancreas that are essential for health and well-being. Understanding the mechanisms involved in iron metabolism is important to understanding diseases and conditions attributable to iron overload states.

Dietary iron is absorbed through the digestive tract and enters the bloodstream where it combines with a protein on red blood cells to form hemoglobin (the component of red blood cells that carries oxygen). Approximately 75% of the absorbed iron is bound to hemoglobin. Oxygen binds to hemoglobin to form oxyhemoglobin that is then transported by the red blood cells throughout the body and is made available to the cells to enable them to perform their metabolic functions. Without iron, our red blood cells would not be able to bind and carry oxygen and we would not be able to survive. Approximately 10-20% of absorbed iron goes into "storage" and is used as needed.