Explanation

What is Haemochromatosis?

Genetic haemochromatosis is one of the most frequent inborn errors of iron metabolism. The disorder causes the body to absorb more iron than usual from food. In most cases it is caused by a genetic (inherited) predisposition. This disorder is common in people of northern European descent. It is one of the most treatable disorders if detected early.

Normal Absorption of Iron

Iron is a vital trace element, and is normally consumed in our daily diet. The body is finely tuned to take in only as much iron as it needs. Red blood cells contain protein call haemoglobin, which carries oxygen. Iron is needed for production of this particular protein, and the iron in food is absorbed via the small intestine.

The human body has no method of excreting excess iron, so iron levels in the body are controlled by not absorbing more iron than is needed. The body typically stores around one gram or less of iron at any given time.
However, a person with haemochromatosis absorbs a great deal more iron from their food than is necessary. Iron stores of five grams or more build up inside the body. Organs such as the liver, heart and pancreas are affected and ultimately damaged. Without treatment, haemochromatosis can cause premature death.

Effects of Abnormal Absorption

Normally, excess iron is safely stored in various joints and organs in the body, particularly the liver.
In a person with haemochromatosis, iron stores keep rising and, over time, the liver enlarges and becomes damaged, leading to serious diseases such as cirrhosis.

Other problems that can be caused by excessive iron include heart disease, diabetes, endocrine and sexual dysfunction and arthritis.

Both sexes are at risk, but women tend to develop the condition later in life, since regular menstrual periods deplete the body of iron.
Haemochromatosis tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses.