Table 2.
Phenotypes of 76 women with hemochromatosis and HFE p.C282Y homozygosity a
| Phenotype | HLA-A*03 homozygotes, % (n = 16) | HLA-A*03 heterozygotes (n = 38) | No HLA-A*03, % (n = 22) | Value of p |
|---|---|---|---|---|
| Mean age, y ± 1 SD | 49 ± 15 | 51 ± 12 | 51 ± 13 | 0.8227 |
| Mean TS, % ± 1 SD | 77 ± 17 | 75 ± 20 | 76 ± 19 | 0.7844 |
| Median SF, µg/L (range) | 480 (65, 3468) | 444 (34, 5427) | 644 (32, 5000) | 0.6635 |
| Hemochromatosis arthropathy, % (n) | 25.0 (4) | 13.2 (5) | 22.7 (5) | 0.6063 |
| Diabetes, % (n) | 18.8 (3) | 15.8 (6) | 18.2 (4) | 0.9357 |
| Hypogonadotropic hypogonadism b, % (n) | 0 | 0 | 0 | 1.0000 |
| Cardiomyopathy, % (n) | 0 | 0 | 0 | 1.0000 |
| Cirrhosis, % (n) | 6.3 (1) | 2.6 (1) | 1.3 (1) | 0.3030 |
| Median FIB-4 index (range) | 0.96 (0.52, 4.52) | 0.93 (0.43, 5.16) | 0.98 (0.44, 2.53) | 0.8785 |
| Median APRI (range) | 0.22 (0.09, 1.47) | 0.24 (0.13, 1.07) | 0.24 (0.11, 1.17) | 0.9252 |
| Median QFe/age, mg/y (range) | 77 (27, 291) | 51 (7, 645) | 54 (0, 244) | 0.4346 |
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 Testing was indicated in 3 women, none of whom had hypogonadotropic hypogonadism