Hemochromatosis

Hemochromatosis is an inherited disease in which too much iron builds up in your body. It is one of the most common genetic diseases in the United States.

Iron is a mineral found in many foods. Your body normally absorbs about 10 percent of the iron in the food you eat. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.

The most common treatment is to remove some blood, just like when you donate blood. This is called therapeutic phlebotomy. Medicines may also help remove the extra iron. Your doctor might suggest some changes in your diet.

Causes

There are two types of hemochromatosis: primary (hereditary) and secondary. Each type has a different cause.

• Primary Hemochromatosis

A defect in the genes that control how much iron you absorb from your diet causes primary hemochromatosis. Primary hemochromatosis is sometimes called hereditary hemochromatosis or classical hemochromatosis. Most cases of hemochromatosis are primary hemochromatosis.

The genes most commonly involved in primary hemochromatosis are called HFE genes. Abnormal HFE genes cause the body to absorb too much iron. Humans inherit two copies of most of the genes in the body, one from each parent. You have primary hemochromatosis if you inherit two copies of the abnormal HFE gene, one from each parent.

If you inherit one abnormal HFE gene and one normal HFE gene, you are a hemochromatosis “carrier.” Carriers do not usually develop the disease, but they can pass the abnormal gene on to their children. About 1 in 10 people in the United States are believed to be hemochromatosis carriers.

If both parents are carriers of the abnormal HFE gene, then each of their children has a 1 in 4 chance of inheriting a pair of abnormal HFE genes.

Other types of abnormal genes also can cause hemochromatosis, but less commonly. Scientists are still studying what other changes to normal genes may cause hemochromatosis.

• Secondary Hemochromatosis

This type of hemochromatosis is usually the result of another disease or condition that can cause iron overload. Diseases or conditions that may cause hemochromatosis include:

• Certain anemias, such as thalassemia and aplastic anemia

• A condition called African iron overload, which is a combination of an inherited disorder and diet

• Atransferrinemia and aceruloplasminemia, both rare inherited diseases

• Chronic liver disease, such as hepatitis, alcoholic liver disease, or nonalcoholic steatohepatitis (“steato” means “fatty”)

Secondary hemochromatosis can sometimes be caused by too much iron from:

• Blood transfusions
• Iron intake (from oral iron pills or injected iron)
• Long-term kidney dialys

Symptoms

• More and more people are being diagnosed with hereditary haemochromatosis without showing any symptoms. Symptoms can be difficult to spot, as they are often mild initially, with many potential causes. Fatigue and lethargy are common, and joint pain or arthritis may occur. Sexual problems, particularly impotence in men or loss of menstruation in women, may be an important early sign.

As the iron overload increases, sufferers may experience the following diseases.

• Liver disease: the liver is the main site of excessive iron build up. The disease causes scarring or liver fibrosis leading to cirrhosis. Symptoms include abdominal pain, jaundice, swelling of the ankles or abdomen and enlargement of the liver or spleen. In severe cases bleeding from the gut or coma can occur.

• Heart disease: excess iron deposits may lead to one of two heart conditions. These are heart failure (indicated by tiredness, lack of energy, shortness of breath and ankle swelling) and abnormal heart rhythms. Patients may experience extra heart beats known as ectopics or disorders where the heart goes either too fast (tachycardia) or too slow (bradycardia).

• Pancreatic disease: sugar diabetes (diabetes mellitus) may be an early sign of haemochromatosis and develops in up to half of all patients with advanced disease. Diabetes is due to excess iron in the pancreas gland damaging the insulin producing cells. This complication together with the dark skin pigmentation that can occur has led to haemochromatosis sometimes being called 'bronze diabetes'.

• Other rare symptoms: endocrine gland problems particularly with pituitary, thyroid or sex hormones can occur, as can skin and neurological disease.

Why or how do I get haemochromatosis?

Primary haemochromatosis is an inherited disease.

It is thought to be mainly caused by a mutation of a gene called HFE, which probably allows excess iron to be absorbed from the diet. This mutation is known as C282Y and to develop haemochromatosis you usually need two genes (one from each parent) to be C282Y. However, not everyone with the mutation may develop the disease and it may occur if only one C282Y gene is present.

Confusingly another mutation labelled H63D elsewhere on the HFE gene may occur alone or with C282Y and also influence iron levels.

Who is at risk?

Haemochromatosis is more common in Caucasian or white populations, with about 1 in 300 to 1 in 400 affected. About half that number are affected in black populations.

Men are more likely to have hereditary haemochromatosis and suffer from it at an earlier age, as women regularly lose iron in menstruation or use stores in pregnancy.

How does the disease develop?

The onset of hereditary haemochromatosis usually occurs between the ages of 30 and 60 as the build up of iron takes years. However, a rapid form of the disease does affect children. If left untreated excess iron builds up in the organs especially the liver, heart and pancreas. This may cause heart or liver failure, which can be fatal.

Diagnosed

A hospital specialist in liver or heart disease is more likely to spot haemochromatosis, as most GPs are unfamiliar with the disease. Blood tests are carried out first but these are not always reliable. Patients with symptoms often have a liver biopsy to assess liver damage and confirm the presence of excess iron.

Screening of relatives of patients with hereditary haemochromatosis is usually recommended.

Treatment

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