Table 1.
| Family Study Participants by HFE Genotype | |||
|---|---|---|---|
|
| |||
| Characteristic | Participants in C282Y/C282Y Proband Families (n = 666) | Participants in Non-C282Y/C282Y Proband Families (n = 276) | All Participants (n = 942‡) |
| Proband§ | 103 (15) | 68 (25) | 171 (18) |
| SF, TS screen positive | 56 (8.4) | 68 (25) | 124 (13) |
| SF, TS screen negative | 47 (7.1) | 0 (0) | 47 (5.0) |
| Female | 388 (58) | 150 (54) | 538 (57) |
| Race or Ethnicity | |||
| Caucasian | 642 (96) | 81 (29) | 723 (77) |
| Asian | 0 (0.0) | 98 (36) | 98 (10) |
| Hispanic | 17 (2.6) | 58 (21) | 75 (8.0) |
| Other | 7 (1.1) | 38 (14) | 45 (4.8) |
| HFE genotype | |||
| C282Y/C282Y | 206 (31) | 4 (1.5) | 210 (22) |
| C282Y/H63D | 53 (8.0) | 16 (5.8) | 69 (7.3) |
| H63D/H63D | 5 (0.8) | 16 (5.8) | 21 (2.2) |
| C282Y/wt | 288 (43) | 35 (13) | 323 (34) |
| H63D/wt | 34 (5.1) | 45 (16) | 79 (8.4) |
| wt/wt | 79 (12) | 160 (58) | 239 (25) |
| Menopause (% among women) | 178 (46) | 81 (54) | 259 (48) |
| History of hepatitis | 17 (2.6) | 9 (3.3) | 26 (2.8) |
| Phlebotomy treatment | 57 (8.6) | 4 (1.5) | 61 (6.5) |
| CRP >0.5 mg/dL | 173 (26) | 49 (18) | 222 (24) |
| Age (y) | 48.2 ± 16.0 | 49.8 ± 15.9 | 48.7 ± 16.0 |
| Alcohol consumption (gm/d) | 8.3 ± 18.5 | 6.3 ± 16.8 | 7.7 ± 18.1 |
| Body mass index | 27.5 ± 5.5 | 27.3 ± 6.2 | 27.4 ± 5.7 |
| SF (μg/L) median (IQR) | 124.5 (51.0, 281.0) | 208.5 (93.0, 370.5) | 137.5 (59.0, 329.0) |
| TS (%) | 42.9 ± 22.4 | 44.5 ± 16.0 | 43.4 ± 20.7 |
| UIBC (μg/dL) | 172 ± 84 | 163 ± 63 | 169 ± 79 |
Participants include both proband and non-proband family members from heritability analysis
Values are count and column percentage for categorical variables, mean ± standard deviation for continuous variables, except where median and interquartile range (IQR) are used, as noted.
Total sample size is n = 942. Depending on completeness of data, the sample size varied from 602 to 666 in C282Y/C282Y proband families, and from 236 to 276 in non-C282Y/C282Y proband families.
Three probands are excluded from the 174 families for analysis due to incomplete or inconsistent data for inclusion. Probands listed as screen positive are those for whom the TS and SF values were both above gender-specific cutoffs at the Initial Screening; screen negative are those for whom TS and SF values did not meet this criterion.