Table 1.
Phenotypes of 104 men with hemochromatosis and HFE p.C282Y homozygosity a
| Phenotype | HLA-A*03 homozygotes, % (n = 21) | HLA-A*03 heterozygotes (n = 66) | No HLA-A*03, % (n = 17) | Value of p |
|---|---|---|---|---|
| Mean age, y ± 1 SD | 46 ± 12 | 48 ± 15 | 47 ± 12 | 0.6251 |
| Mean TS, % ± 1 SD | 88 ± 16 | 80 ± 16 | 81 ± 13 | < 0.0001 b |
| Median SF, µg/L (range) | 1362 (389, 6103) | 867 (28, 5613) | 1112 (285, 5001) | 0.0252 c |
| Hemochromatosis arthropathy, % (n) | 19.0 (4) | 21.2 (14) | 41.2 (7) | 0.1911 |
| Diabetes mellitus, % (n) | 33.3 (7) | 13.6 (9) | 29.4 (5) | 0.0860 |
| Hypogonadotropic hypogonadism d, % (n) | 9.5 (2) | 3.0 (2) | 11.8 (2) | 0.2754 |
| Cardiomyopathy, % (n) | 0 | 0 | 0 | 1.0000 |
| Cirrhosis, % (n) | 16.0 (5) | 9.1 (6) | 23.5 (4) | 0.1248 |
| Median FIB-4 index (range) | 1.14 (0.37, 2.64) | 1.12 (0.33, 6.16) | 1.26 (0.65, 2.46) | 0.2595 |
| Median APRI (range) | 0.46 (0.17, 5.31) | 0.31 (0.13, 2.75) | 0.48 (0.20, 1.28) | 0.0162 e |
| Median QFe/age, mg/y (range) | 71 (14, 213) | 61 (0, 714) | 73 (8, 320) | 0.6386 |
a Abbreviations: APRI, aspartate aminotransferase-to-platelet ratio, FIB-4 fibrosis-four variables index, HLA human leukocyte antigen, QFe/age is defined as the quotient of quantity of iron removed to achieve iron depletion by age at diagnosis (mg/y); SD standard deviation, SF serum ferritin, TS transferrin saturation
b Mean TS of A*03 homozygotes was greater than that of A*03 heterozygotes (p < 0.05, post-hoc Scheffe's test)
c Median SF of A*03 homozygotes was greater than that of A*03 heterozygotes (p < 0.05, post-hoc Dunn's test)
d Testing was indicated in 61 men, 6 of whom had hypogonadotropic hypogonadism
e Median APRI of A*03 homozygotes was greater than that of A*03 heterozygotes (p < 0.05, post-hoc Dunn's test). Median APRI of A*03-negative probands was greater than that of A*03 heterozygotes (p < 0.05, post-hoc Dunn's test)