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Is a single test for C282Y sufficient for ascertainment of HHC

In Italy and in Alabama, USA, fewer than 70% of patients with HHC are homozygous for C282Y. Even in the UK, where a very high frequency of C282Y has been observed, 10% of HHC cases cannot be detected if one uses a test for C282Y only, and more than 30% in Alabama and in Italy and France (excluding Brittany). Clinicians may be misled to believe that patients who are not homozygous for C282Y do not have HHC.

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