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What is Hemochromatosis and what are its causes?

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much of iron builds up in your body (iron overload).

– Iron is a mineral found in many foods.
– Too much iron is toxic to your body.
– It can poison your organs and cause organ failure.
– In hemochromatosis, iron can build up in most of your body’s organs.
– It builds especially in the liver, heart, and pancreas.
– Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure.
– Too much iron in the pancreas can lead to diabetes.
– If hemochromatosis isn’t treated, it may even cause death.

Too much iron in the liver can cause:
– an enlarged liver,
– liver failure,
– liver cancer,
– cirrhosis (sir-RO-sis): scarring of the liver, which causes the organ to not work well.

Types of Hemochromatosis
The two types of hemochromatosis are primary and secondary.
Primary hemochromatosis is caused by a defect in the genes. These genes control how much iron you absorb from food.
Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload.

The basic two types of hemochromatosis are:
Hereditary hemochromatosis: Hemochromatosis is mainly associated with a defect in a gene called the HFE gene.
Acquired hemochromatosis: It occurs as a result of certain medical conditions.

Primary Hemochromatosis
– It is inherited from their parents.
– If you inherit two hemochromatosis genes—one from each parent—you’re at risk for iron overload.
– The two faulty genes cause your body to absorb more iron than usual from the foods you eat.
– The severity of hemochromatosis also varies.

Certain factors that can affect the severity of the disease are:
– A high intake of vitamin C can make hemochromatosis worse.
– This is because vitamin C helps your body absorb iron from food.
– Alcohol use can worsen liver damage.
– Cirrhosis caused by hemochromatosis.
– Conditions such as hepatitis also can further damage or weaken the liver.

Hereditary Hemochromatosis
– It is caused by a mutation in a gene that controls the amount of iron your body absorbs.
– The mutations that cause hereditary hemochromatosis are passed from parents to children.

Gene mutations that cause hemochromatosis:
– The gene that is mutated most often in people with hereditary hemochromatosis is called HFE.
– You inherit one HFE gene from each of your parents.
– If both parents pass mutated HFE genes to you, you may develop hemochromatosis.
– 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 two abnormal genes:
– One may develop hemochromatosis.
– Not everyone with two abnormal genes develops signs and symptoms of hemochromatosis.
– You can also pass the mutation on to your children.

If you inherit one abnormal gene:
– One won’t develop hemochromatosis.
– But your body may absorb more iron than normal.
– You are considered a gene mutation carrier and can pass the mutation on to your children.

How hemochromatosis affects your organs?
– Patients with hereditary hemochromatosis may absorb as much as 30 percent of the iron that is ingested.
– Your body can’t use or eliminate this extra iron, it’s stored in the tissues of major organs, especially the liver.
– Eventually you may accumulate five to 20 times as much iron as normal.
– Over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis and diabetes.

Other types of hemochromatosis

Juvenile hemochromatosis
– This causes the same problems in young people that hereditary hemochromatosis causes in adults.
– Iron accumulation begins much earlier and symptoms usually appear between the ages of 15 and 30.
– Although juvenile hemochromatosis is an inherited disease, the genetic abnormalities that cause it don’t involve the HFE gene.
– It is caused by a mutation in a gene called hemojuvelin.

Neonatal Hemochromatosis
– In this severe disorder, iron builds up rapidly in a baby’s liver and can cause death.

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