DNA Direct: Your Genes in Context
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Testing for Genetic Disorders
HEMOCHROMATOSIS
Who Should Consider Testing for Hemochromatosis?
Can genetic testing for hemochromatosis, or iron overload, help you make better health decisions and prevent disease? Here are reasons to get tested for hereditary hemochromatosis (HH):
A family history of iron overload disease
Known cases of hereditary hemochromatosis in your family
Unexplained symptoms of iron overload
Diabetes, liver disease, or heart disease
A family history of iron overload disease:
- HH is the most common genetic disorder that runs in families.
- 1 in 10 people in the U.S. carry a gene change related to HH.
- 1 in 4 people of Celtic ancestry carry a gene change related to HH.
- HH can be mild or severe – even within the same family.
Known cases of hereditary hemochromatosis in your family:
- Genes run in families, which means that if any blood relatives have HH, you are at increased risk of having it, too.
- The likelihood that you have HH depends on how closely you are related to the person with HH.
Unexplained symptoms of iron overload:
- Early symptoms of hemochromatosis are general – weakness, fatigue, muscle and joint pain, loss of sex drive – and can be mistaken for other common problems.
- Advanced symptoms mimic other adult diseases, such as diabetes, liver disease, and heart disease.
- Hemochromatosis is often misdiagnosed and mistreated.
Diabetes, liver disease, or heart disease:
- It is estimated that hemochromatosis accounts for 15 percent of the cases of adult-onset diabetes.
- Treating iron overload that is at the root of other health problems can reverse or stop the progression of those diseases.
- Untreated iron overload can result in liver disease.
- HH may be the cause of liver disease if alcohol, medications and other causes have been ruled out.
- 15 to 20 percent of people with liver cirrhosis develop liver cancer. This is a 200-fold increased risk for liver cancer.
- Knowing about HH can help family members get tested and treated early.
Knowing whether you have a genetic risk for iron overload means you can take steps to prevent or stop the symptoms of this disorder. As a result, you can live a longer, healthier life.
A HUMAN TOUCH
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Senior Genetic Counselor
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