Prevalence of haemochromatosis in screening studies using genotyping and phenotyping
| Year | Population sample | Number screened | Location | Initial test | Liver biopsy | Prevalence of C282Y homozygotes | Iron Overload1-150 | Reference |
|---|---|---|---|---|---|---|---|---|
| 1998 | Electoral roll | 1064 | Christchurch, New Zealand | TS%, C282Y | Yes | 1 in 213 | 60% | Burt and colleagues2 |
| 1999 | Primary care (HMO) | 1653 | Missouri, USA | TS%, C282Y | Yes | 1 in 276 | 50% | McDonnell and colleagues5 |
| 1999 | Blood donors | 5211 | London, Canada | UIBC, C282Y | Yes | 1 in 327 | 19% | Adams and colleagues4 |
| 1999 | Epidemiology survey | 3011 | Busselton, Australia | TS%, C282Y | Yes | 1 in 188 | 75% | Olynyk and colleagues3 |
↵1-150 Iron overload is defined as the percentage of C282Y homozygotes with an elevated serum ferritin.
TS, transferrin saturation; UIBC, unbound iron binding capacity.