Table 2

Comparison of population screening strategies for haemochromatosis

Phenotypic (sequential visits) Phenotypic/genotypic (sequential visits) Phenotypic/genotypic (one step) Genotypic/phenotypic (one step)
Initial test TS or UIBCTS or UIBCTS or UIBCC282Y
Secondary testsReturns for fasting TS then ferritin Returns for fasting TS then ferritin followed by C282YFerritin on original sample followed by C282YFerritin on original sample
Liver biopsy AllSelected cases (liver dysfunction, atypical genetic test)Selected cases (liver dysfunction, atypical genetic test)None
OverdiagnosisAlcoholic liver disease, chronic viral hepatitisNoNoDetects non expressing homozygotes
Underdiagnosis Will exclude homozygotes with TS <45% and those that do not return for fasting TSWill exclude homozygotes with TS <45% and those that do not return for fasting TSWill exclude homozygotes with TS <45 % or UIBC >28 μmol/lWill exclude non-C282Y haemochromatosis
Age dependentYesYesYesNo
Detects iron deficiencyYesYesYesNo
Cost considerations Cost of liver biopsy Cost of lost homozygotes that do not return for fasting TSMore C282Y and ferritin tests but fewer homozygotes missedCost of initial genetic test

  • TS, transferrin saturation; UIBC, unbound iron binding capacity.