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Table 1 Phenotypes of 104 men 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 = 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

  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 Mean TS of A*03 homozygotes was greater than that of A*03 heterozygotes (p < 0.05, post-hoc Scheffe's test)
  3. c Median SF of A*03 homozygotes was greater than that of A*03 heterozygotes (p < 0.05, post-hoc Dunn's test)
  4. d Testing was indicated in 61 men, 6 of whom had hypogonadotropic hypogonadism
  5. 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)