Table 5 Recommendations to screen for HH in other patient populations

Screening

1. HFE testing must be considered in patients with well-defined chrondrocalcinosis in case of an otherwise unexplained increase in ferritin and transferrin saturation.

2. HFE testing must be considered in patients with type 1 or type 2 diabetes in case of abnormal iron parameters.

3. HFE testing should not be performed in patients with unexplained osteoarthritis.

4. HFE testing should be considered in patients with unexplained chronic liver disease pre-selected for increased transferrin saturation.

Diagnosis

5. Patients from liver clinics should be screened for transferrin saturation and serum ferritin.

6. Patients from liver clinics should be offered genetic testing if transferrin saturation and ferritin are increased.

7. If a patient has suggestive symptoms, physical findings or a suggestive family history, a combination of TS and ferritin should be measured. If both are abnormal (TS > 45 % and ferritin above upper limit of normal), HFE mutation analysis should be performed.

8. HFE testing for the C282Y and H63D polymorphism should be carried out in all patients with otherwise unexplained increased serum ferritin and transferrin saturation.

9. In C282Y homozygote patients with increased iron stores, liver biopsy is no longer necessary to diagnose haemochromatosis.