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Family-based Detection Summary

Patients and Their Families
Genetic Testing
  • Genetic testing in families with HFE-associated hemochromatosis can be particularly useful for determining:
    • Who is NOT at increased risk: A family member who has no HFE mutations has the same risk of developing hemochromatosis as the general population.
    • If iron overloading is genetic: In a person with hemochromatosis, finding two HFE mutations confirms that iron overloading is genetic.

Test Your Knowledge

This is an optional self-quiz and is not required for continuing education credit.

Select the best answers below. If you need help, feel free to go back to Patients & Their Families or Genetic Testing & Basic Counseling and review. 

Question 1: In a family with known HFE-associated hemochromatosis, how often should a family member who has normal biochemical test results for iron overload (fasting TS and SF) have repeated testing?
Every 10 years.
Every 2-5 years.
Question 2: In a family with HFE-associated hemochromatosis, a blood relative who has no HFE mutations has what risk of developing hemochromatosis?
The same risk as the general population.
Twice as likely to develop hemochromatosis as the general population.
Less likely than the general population to develop hemochromatosis.
Question 3: A limitation of genetic testing is that it CANNOT:
Select the best answer(s) below:
Predict who will develop hereditary hemochromatosis.
Predict who will develop iron overload.
Predict who will develop fatigue and joint pain.

Question 4: In counseling a hemochromatosis patient about family-based detection, which of the following should be included in your discussion?
Select the best answer(s) below:
Encourage the patient to discuss his or her diagnosis with blood relatives, particularly parents, siblings, and grandparents and urge them to visit their doctors to discuss biochemical testing.
Two simple blood tests can be used to determine if a person has iron overload and if he or she requires phlebotomy treatments.
Many people feel fine although they are accumulating iron in body tissues. Therefore, finding the disease early through blood tests is important.