Hemochromatosis Genetic Screening (cont.)
IN THIS ARTICLE
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.
What Is Hemochromatosis Genetic (HFE) Screening?
Screening tests help your doctor look for a certain disease or condition before any symptoms appear. This can increase your chance of finding the problem at a curable or more treatable stage.
Hemochromatosis gene (HFE) testing is done to check to see if a person is likely to develop hereditary hemochromatosis. This test checks whether you are a carrier of the defective gene that causes hemochromatosis. HFE testing locates gene mutations that are called C282Y and H63D. The test can usually confirm whether a person has an increased chance for having hereditary hemochromatosis.
HFE testing identifies a genetic risk rather than the disease itself. Even if you have one or more HFE genes, you may never get sick.
eMedicineHealth Medical Reference from Healthwise
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