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Hemochromatosis Genetic Screening


What Is Hereditary Hemochromatosis?

Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron. This causes iron to build up in the blood, liver, heart, pancreas, joints, skin, and other organs.

In its early stages, hemochromatosis can cause joint and belly pain, weakness, lack of energy, and weight loss. It can also cause scarring of the liver (cirrhosis), darkening of the skin, diabetes, infertility, heart failure, irregular heartbeats (arrhythmia), and arthritis. But many people do not have symptoms in the early stages.

In men, hereditary hemochromatosis is usually found at ages 40 to 60. In women, it is not usually found until after menopause because, until that time, women regularly lose blood and iron during their monthly periods.

What Causes Hereditary Hemochromatosis?

Hereditary hemochromatosis is a genetic disorder called an autosomal recessive disorder. It is passed from a parent to a child (inherited). Most people who have hemochromatosis inherit defective genes from both parents. In rare cases, a person can have hemochromatosis by inheriting defective genes from just one parent.

A person who has inherited only one defective gene will most likely be a carrier of hemochromatosis and will not have the disease. A carrier can pass the defective gene on to his or her children.

  • If only one parent is a carrier of a defective gene, the child will not have hemochromatosis. But there is a 50% chance that the child will be a carrier.
  • If both parents are carriers, there is only a 25% chance that the child will have both defective genes and so will have a higher risk of getting hemochromatosis. But there is a 50% chance that the child will be a carrier.

eMedicineHealth Medical Reference from Healthwise

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