Hemochromatosis

Question 1

Who is at risk for hereditary hemochromatosis screening?

Answer 1

All first-degree relatives of patients with known mutation in HFE gene.

Question 2

How to conduct screening for hereditary hemochromatosis?

Answer 2

Test for HFE mutations, transferrin saturation, and serum ferritin simultaneously to assess iron overload risk.

Question 3

When should screening for hereditary hemochromatosis start?

Answer 3

Only after 18 years of age.

Genetic testing for the risk of HHC is recommended in individuals with suspected iron overload (ie elevated serum ferritin concentration >200 µg/L [(females)] or >300 µg/L [(males)], and a transferrin saturation >45%).

Question 4

What to do if a genetic test for hereditary hemochromatosis is positive?

Answer 4

Test all first-degree relatives of the patient for HFE mutation.

Question 5

How to screen other relatives (not 1st degree) for hereditary hemochromatosis?

Answer 5

Start with transferrin saturation and serum ferritin concentration.

Question 6

When is a hereditary hemochromatosis screening considered positive?

Answer 6

Fasting transferrin saturation >45% or fasting ferritin >250 µg/L on more than one occasion.

Question 7

How to confirm hereditary hemochromatosis diagnosis?

Answer 7

Test for HFE mutations; if positive, refer for genetic counseling.

Question 8

When to test a patient under 18 years with one parent having the mutation for hereditary hemochromatosis?

Answer 8

Only if the other parent has the C282Y mutation.