Distribution of HFE genotype in relation to degree of iron overload
| Genotype . | Mobilized iron (g) . | Total . | ||
|---|---|---|---|---|
| (< 1.5) . | (1.5 to 4) . | (> 4) . | ||
| C282Y homozygous | 5 (63%) | 32 (48%) | 37 (77%) | 74 (60%) |
| Compound heterozygous | 0 | 14 (21%) | 2 (4%) | 16 (13%) |
| H63D homozygous | 0 | 5 (7%) | 3 (6%) | 8 (7%) |
| C282Y heterozygous | 1 (12%) | 5 (7%) | 3 (6%) | 9 (7%) |
| H63D heterozygous | 1 (12%) | 6 (9%) | 3 (6%) | 10 (8%) |
| Normal | 1 (12%) | 5 (7%) | 0 | 6 (5%) |
| Total | 8 | 67 | 48 | 123 |
| Genotype . | Mobilized iron (g) . | Total . | ||
|---|---|---|---|---|
| (< 1.5) . | (1.5 to 4) . | (> 4) . | ||
| C282Y homozygous | 5 (63%) | 32 (48%) | 37 (77%) | 74 (60%) |
| Compound heterozygous | 0 | 14 (21%) | 2 (4%) | 16 (13%) |
| H63D homozygous | 0 | 5 (7%) | 3 (6%) | 8 (7%) |
| C282Y heterozygous | 1 (12%) | 5 (7%) | 3 (6%) | 9 (7%) |
| H63D heterozygous | 1 (12%) | 6 (9%) | 3 (6%) | 10 (8%) |
| Normal | 1 (12%) | 5 (7%) | 0 | 6 (5%) |
| Total | 8 | 67 | 48 | 123 |
Patients were stratified on the basis of the amount of mobilized iron (mob Fe). Of the patients, 39% had > 4 g mob Fe (48/123 patients). Of these patients, 37 of 48 (77%) were homozygous C282Y. Patients with lower degrees of iron loading were more likely to have genotypes other than C282Y/C282Y; notably, 21% of patients with mob Fe between 1.5 and 4 g were compound heterozygotes.