Hemochromatosis is also known as genetic iron poisoning disease. July month is Hemochromatosis awareness month. Many people are not aware of the fact that they can be carrying this genetic disease where they have a tendency to accumulate more iron. This disease is one of the most common genetic disease in united states. However, not everyone who has hemochromatosis has signs or symptoms of the disease.
Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods. Too much iron is toxic to the body. It can poison organs and cause organ failure. In hemochromatosis, iron can build up in most of body’s organs, but especially in the liver, heart, and pancreas. Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis. Cirrhosis is scarring of the liver, which causes the irregular functioning and slow death of liver.
The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron one can absorb from food. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload.
Symptoms & complications:
Some people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often overlap with those of other common conditions. Common symptoms include:
- Joint pain
- Abdominal pain
Later signs and symptoms of the disease may include:
- Loss of sex drive
- Heart failure
- Liver failure
- Liver damage can cause cirrhosis, which is permanent scarring of the liver.
- Pancreatic damage can cause changes in insulin levels, leading to diabetes.
- Circulation problems may lead to heart failure.
- Iron buildup in the heart can lead to irregular heart rhythm.
- Excess iron can cause skin to turn bronze or gray.
Which gene carries hemochromatosis?
A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.
- If you inherit 2 abnormal genes, you may develop hemochromatosis. You can also pass the mutation on to your children. But, not everyone who inherits two genes develops problems linked to the iron overload of hemochromatosis.
- If you inherit 1 abnormal gene, you won’t develop hemochromatosis. You are considered a gene mutation carrier and can pass the mutation on to your children. But, they wouldn’t develop disease unless they also inherited another abnormal gene from the other parent.
- Having 2 copies of a mutated HFE gene is the greatest risk factor for hereditary
- Family history- If you have a first-degree relative — a parent or sibling — with hemochromatosis, you’re more likely to develop the disease.
- Ethnicity – People of Northern European descent are more prone to hereditary hemochromatosis than are people of other ethnic backgrounds. Hemochromatosis is less common in African-Americans, Hispanics and Asian-Americans.
- Your sex- Men are more likely than women to develop signs and symptoms of hemochromatosis at an earlier age. Because women lose iron through menstruation and pregnancy, they tend to store less of the mineral than men do. After menopause or a hysterectomy, the risk for women increases.
Diagnosis: Through Blood testing, DNA testing and biopsy of the liver.
Treatment: Phlebotomy is the simplest and cheapest form of therapy for hemochromatosis. The process involves – the removal of blood from the hemochromatosis patient’s body. One may need phlebotomy on a regular basis to remove excess iron. Normally initial stages one has to have them up to twice a week. After the initial treatments, four to six times per year phlebotomy will be done.
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