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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.