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Table 2 Clinical, biochemical and immunological characterization of Portuguese HH patients, according to the combination of the two inherited conserved haplotypes*

From: A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis

 

A-A-T × A-A-T

(n = 46)

G-G-G × A-A-T

(n = 6)

P**

Age (years)

46 ± 12

37 ± 8

n.s.

Male/Female

25/21

3/3

 

Transferrin saturation (%)

87 ± 17

83 ± 13

n.s.

Serum ferritin (ng/ml)

1774 ± 1848

701 ± 1124

n.s.

TBIS (g)

7.58 ± 4.58

3.04 ± 1.52

0.035

Symptomatic patients

54% (25/46)

0% (0/6)

0.04

Total CD8+ cells (× 10 6 /ml)

0.35 ± 0.17

0.55 ± 0.14

0.0092

Total CD4+ cells (× 10 6 /ml)

0.96 ± 0.37

1.24 ± 0.40

n.s.

Total lymphocytes (× 10 6 /ml)

1.98 ± 0.57

2.65 ± 0.42

0.0081

  1. * Conserved haplotypes are defined by SNP markers PGBD1-ZNF193-ZNF165 (see Haplotype definition in Material and Methods). Only one patient did not have any of these two conserved haplotypes and was not included in this analysis.
  2. ** Statistically significant differences between groups (P) were tested using Student's T-test (for mean values) or the Chi-square test with Yates correction (for categorical data). Parameters are expressed as mean ± standard deviation, except percentage of symptomatic patients. Estimation of total body iron stores (TBIS) was obtained in 37 patients with the haplotypes A-A-T × A-A-T and in 5 patients with the haplotypes G-G-G × A-A-T.