Two copies can predispose to the iron overload disorder hemochromatosis. This may present as chronic fatigue, skin pigmentation, heart irregularities, impotence, diabetes, dysfunction of the liver, cirrhosis or cancer, premature menopause, arthritis or decreased functioning of the thyroid.
Even one copy of C282Y can be associated with too much iron in the liver, high cholesterol, diabetes and the skin disorder porphyria cutanea tarda.
Other mutant genes exist and are distributed throughout the world's population.
Probably the greatest difficulty in diagnosing early hemochromatosis is that it is non-specific and symptoms are vague. Many sufferers are often diagnosed with the "flu" or "chronic fatigue syndrome". If the correct tests are not done sufferers may even be given iron tablets which further worsen their symptoms.
The earliest symptoms of hemochromatosis are fatigue and aching joints. Once iron has begun to accumulate in body tissues the liver may be affected. In the past it has not been uncommon for sufferers to be suspected or being secret drinkers when abnormal liver function tests are found.
As iron continues to accumulate the condition of the liver may worsen and other organs may be affected.
Other organs which may be involved include the skin, pancreas, ovaries, testes, heart, digestive system, thyroid and joints.
Annoying skin rashes, palpitations, impotence and diabetes may be a consequence of too much iron.
Many patients suffer from recurrent infections and may decide to take "immune boosters" which are metabolized by the liver. This can make their condition worse.
Patients with severe hemochromatosis may present with blood poisoning, heart failure, failure of the reproductive organs and severe arthritis where joint replacement is necessary. In the worst cases liver transplant may be necessary. Men over 55 years of age with severe hemochromatosis have 200 times the chance of developing liver cancer.
When the diagnosis of hemochromatosis is made it is important to adjust the diet so that too much iron is not being absorbed because of an improper diet. The biggest considerations are not to take medications which contain iron, consume too much alcohol or Vitamin C.
Vitamin C enhances the absorption of iron and has been known to precipitate heart palpitations in those with hemochromatosis.
Excessive alcohol consumption which has shown to greatly increase iron absorption in those with hemochromatosis is set at 60g a day. Thus it is important to stay well below this level. The limit should be 30g a day. When a patient has two copies of C282Y and drinks excessive alcohol there is a multiplying affect - not an additive affect - on the absorption of iron. It is deadly to drink too much alcohol if you have hemochromatosis.
The ingestion of black tea has been shown to decrease the absorption of iron. African tea which is becoming popular may contain iron so too much should not be consumed.
Don't take milk thistle which has often been touted as good for the liver. It can cause severe problems in those with hemochromatosis.
Don't eat raw shellfish. They may be contaminated with Vibrio vulnificans which thrives in an iron rich environment. There have been fatalities in the northern hemisphere. Cooking inactivates this organism.
Vitamin E - as an antioxidant may be of some help because too much iron may act as an oxidant. However it is probably important not to exceed 400 to 800 IU a day of Vitamin E.
Patients with hemochromatosis should not take supplements unless there are documented deficiencies. There is evidence that those with hemochromatosis may also have an increased ability to absorb other heavy metals. While iron may be removed by bleeding it is very difficult to remove other excess heavy metals.
The mainstay of hemochromatosis treatment is bloodletting also known as phlebotomy or venesection. This treatment is life long after diagnosis.
Severe cases of hemochromatosis may need up to and sometimes more than the 10g of iron removed by phlebotomy. In very severe cases phlebotomy may need to initially occur once or twice a week. Each unit of blood is usually 500mls and contains 250mg of iron. So it takes the removal of 2 litres of blood to rid the body of 1g of excess iron. The ongoing need for phlebotomy is highly variable. Maintenance phlebotomies may be in the order of 3 or 4 a year in many cases. Some patients are well maintained by becoming blood donors. The aim is to keep the ferritin level at between 25 to 75 ug/L.. Ferritin level is used to monitor the iron level.
If hemochromatosis is advanced other problems also need to be treated. These can include arthritis, diabetes, heart problems, impotence and cirrhosis. These problems are treated separately but the hemochromatosis is also included in the overall management. For example phlebotomies usually improve diabetes secondary to hemochromatosis. However the diabetes rarely completely clears.
Similarly impotence caused by deposition of iron in the hypothalamus/anterior pituitary and causing testicular failure and impotence is usually not reversed by phlebotomy treatment. With successful deironing or removal of excess iron liver fibrosis may improve. Cirrhosis of the liver usually does not improve.