Table 4.
Serum iron parameters in HEIRS Study participants with heterozygous HCP1 variants.
|
HCP1 Variants |
HFE C282Y status |
Serum Ferritin (SF) (μg/L) |
SF Percentile in HEIRS subgroups1 |
Transferrin Saturation (TS) (%) |
TS Percentile in HEIRS subgroups1 |
Age group2 |
Gender3 | Ethnic group |
HEIRS subgroup |
|---|---|---|---|---|---|---|---|---|---|
| Non-synonymous | |||||||||
| R63S | C/C | 1380 | 99.9 | 96 | 99.9 | 40s | F | Black | case |
| T295A | C/C | 589 | 92.0 | 56 | 99.5 | 40s | M | Black | control |
| V29I | C/C | 368 | 97.7 | 51 | 91.3 | 50s | F | Hispanic | case |
| P456S | Y/Y | 250 | 20.9 | 96 | 97.9 | 50s | M | White | control |
| P456S | Y/Y | 172 | 39.4 | 59 | 84.7 | 50s | F | White | control |
| Intronic | |||||||||
| c.228+17G>A | C/C | 1450 | 99.3 | 78 | 99.8 | 60s | M | Asian | case |
| c.228+76G>A | C/C | 192 | 82.9 | 25 | 58.3 | 50s | F | Black | control |
| Synonymous | |||||||||
| L98L | Y/Y | 131 | 9.5 | 36 | 1.9 | 60s | M | White | case |
| V252V | C/C4 | 79 | 15.6 | 39 | 68.6 | 30s | M | Hispanic | control |
1
Age-, gender-, field center-, and HFE C282Y and H63D genotype-specific percentile for TS or SF within the HEIRS Study [4]
2
To preserve HEIRS participants anonymity, the HEIRS Steering Committee and NHLBI Project Office allows only reporting of participants ages by decade, not specific ages.
3
F=female; M=male
4
This individual is HFE H63D heterozygous.