Hereditary Hemochromatosis

Hereditary Hemochromatosis (HH) is the most common genetic disorder of persons of northern European extraction. Approximately 1 in 200 to 300 persons has the disorder. The incidence in persons of Irish extraction is higher and a rate exceeding 1 in 100 has been found in Ireland. Most cases of HH occur in patients who have two copies of the mutation known as C282Y. A smaller percentage of patients may carry one copy of C282Y and one copy of another mutation known as H63D. These patients are known as compound heterozygotes.

HH is characterized by excessive absorption of dietary iron and a consequent progressive increase in total body iron stores. Iron accumulates in the parenchymal cells of the liver, the heart, pancreas, anterior pituitary and skin. This accumulation of iron in body tissues causes disease.

In severe HH the disorder manifests as potentially life threatening conditions such as septicemia, cirrhosis of the liver, liver cancer, diabetes, heart failure and heart arrhythmias. Arthritis is common and a severe arthritis involving numerous joints may occur. Ovarian and testicular failure secondary to iron deposition in the anterior pituitary and possibly the hypothalamus may occur. Rarely hypothyroidism may occur.

If HH is not treated liver disease may be fatal. The morbidity and mortality of HH can be reduced by early diagnosis and treatment by phlebotomy or blood letting.

There is frequently a delay between the onset of symptoms and diagnosis. This is because early symptoms such as fatigue and arthralgia are nonspecific.

It is very important to make an early diagnosis of HH because patients who have not developed cirrhosis and are treated by phlebotomy have a normal life expectancy.

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