Hemochromatosis

What is Hemochromatosis?

Primary hemochromatosis is usually caused by a specific genetic problem that manifests by the body absorbing and storing too much iron.  It is the most common genetic disorder in the US, affecting about 1 in 200-300 Americans. When there is too much iron in the diet, the extra iron is absorbed in the gastrointestinal tract and then builds up in the body tissues, particularly the heart, liver, and pancreas. If left untreated, these organs can then be damaged. Once the heart, pancreas or liver are damaged, life expectancy is considerably diminished. However, if caught early enough, the patient can live a normal lifespan. Failure by a doctor to timely diagnose hemochromatosis before permanent damage to any bodily organ occurs may constitute medical malpractice.

Primary hemochromatosis typically affects more men than women and is particularly common in Caucasians of western European descent. There is an increased risk if a relative has or had the condition.  Symptoms usually appear in men between 30-50 years of age and in women over 50.

Symptoms include:

• Severe fatigue
• Impotence
• Arthralgia
• Abdominal pain
• Decreased sex drive
• Lack of menstruation in women
• Hypothyroidism
• Bronzing of the skin

Fortunately, primary hemochromatosis has a relatively simple treatment. If these complications are caught early enough, they can usually be reversed by treatment of the iron overload causing them. In an otherwise healthy person, the treatment would consist of regularly-scheduled phlebotomies (bloodletting). In the beginning, the phlebotomies may need to be performed fairly frequently, sometimes as often as once a week, until iron levels are within the normal range. Once these levels are within the normal range, phlebotomies may then be scheduled every other month or every three months depending on the patient’s rate of iron absorption.

For those patients unable to tolerate routine bloodletting, or whose blood count is not high enough to allow for it, there is a chelating agent, known as desferoxamine (deferoxamine) that can be used. Chelating agents bind with iron in the bloodstream and enhances its elimination from the organs involved via the urine and feces. Typical treatment for hemochromatosis requires subcutaneous injection over a period of 8–12 hours daily.

Results may vary depending on your particular facts and legal circumstances.