TABLE 1.
Prevalence of elevated ferritin in C282Y homozygotes identified in screening studies
| Population sample (reference) | Number screened |
C282Y homozygotes
|
||
|---|---|---|---|---|
| Prevalence | Male, ferritin >300 μg/L, or 250 μg/L* | Female, ferritin >200 μg/L* | ||
| Electoral roll (56) | 1064 | 1 in 213 | 1/1 (100%) | 2/4 (50%) |
| Ambulatory care (57) | 1653 | 1 in 276 | 1/1 (100%) | 2/5 (40%) |
| Epidemiology survey (6) | 3011 | 1 in 188 | 5/5 (100%) | 3/7 (43%) |
| Ambulatory care (2) | 41,038 | 1 in 271 | 55/72 (76%)* | 43/79 (54%) |
| Ambulatory care (19) | 65,238 | 1 in 220 | 90%† | 60%* |
| Ambulatory care (HEIRS) (1) | 101,168 | 1 in 227 in Caucasians | 88% | 57% |
*
Ferritin >250 μg/L was the lower limit for males in reference 2;
†
In this large study, genetic testing was only done in cases with an elevated transferrin saturation. The lower expression in women was estimated from observed versus expected prevalence of iron overload. HEIRS Hemochromatosis and Iron Overload Screening study