Hereditary Hemochromatosis

Hereditary Hemochromatosis

Hemochromatosis a hereditary disorder in which the body absorbs too much iron, leading to liver damage, diabetes mellitus, and bronze discoloration of the skin.

Signs and Symptoms

Hemochromatosis can have a large variety of symptoms. These symptoms may differ for men and women. The disorder can be difficult to identify because the early symptoms are similar to those for many common diseases. Most people don’t experience symptoms until middle-age, but some experience them earlier on. Symptoms also depend on the organs that the iron buildup is affecting.

Early symptoms

* Weakness

* Fatigue

* Abdominal pain

* Joint pain

* Weight loss

As the iron builds up in the organs of the body, hemochromatosis can also produce the following symptoms:

* Loss of menstrual periods or early menopause

* Impotence or loss of sex drive

* Shortness of breath

* Loss of body hair

Advanced Symptoms

As the disorder progresses, it can cause the following more serious problems:

* Liver problems, such as cirrhosis or liver cancer

* Arthritis

* High blood sugar and diabetes

* Constant abdominal pain

* Severe fatigue

* Heart problems or heart failure

* Grey or bronze-coloured skin

Causes

Hereditary hemochromatosis occurs when someone inherits two copies of a mutated gene (one from each parent). The gene is called the HFE gene. Men and women share the same chance of inheriting two copies of said gene.

Not everyone born with both copies of the mutated HFE gene will develop the disease. It is unknown what percentage of people that inherit both copies actually develop hemochromatosis. Some studies have suggested that as few as 1 in 100 will experience symptoms. Others have shown that 50 in 100 will.

A person with only one copy of the mutated gene is considered to be a carrier of the disease. Usually, these carriers do not have hemochromatosis. Although, if both a mother and a father are carriers,...