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Table 2 Phenotypes of 76 women with hemochromatosis and HFE p.C282Y homozygosity a

From: HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity

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

  1. 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
  2. b Testing was indicated in 3 women, none of whom had hypogonadotropic hypogonadism