Hemochromatosis

Overview

What is hereditary hemochromatosis?

Hereditary hemochromatosis is a genetic disorder in which the body absorbs too much iron from the food a person eats. This extra iron is kept in the body's organs, like skin, heart, liver, pancreas and joints. A person affected by hemochromatosis cannot effectively eliminate iron in the body, so excess iron is stored. Over time this may lead to symptoms such as fatigue, joint pain, and abdominal pain. Hemochromatosis can also lead to life-threatening conditions, such as liver disease, health problems and diabetes.

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How common is hemochromatosis?

What are the different types of hemochromatosis?

Are there any conditions that are like hemochromatosis?

How common is hemochromatosis?

Hemochromatosis is very common. About 1 million people in the United States is affected by this condition. Most affected individuals are of Northern European descent.

What are the different types of hemochromatosis?

Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.

Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may appear in childhood. By age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If the disorder is untreated, heart disease becomes evident by age 30.

The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms of type 3 hemochromatosis generally begin before age 30.

Are there any conditions that are like hemochromatosis?

The symptoms of hereditary hemochromatosis can be similar to those of secondary hemochromatosis. Hereditary hemochromatosis is caused by inherited genetic changes whereas secondary hemochromatosis is caused by other conditions that may have iron overload as a side effect. These other conditions can include certain types of anemia, blood transfusions, or being on long-term kidney dialysis.

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