Table 2.
Clinical, biochemical and immunological characterization of Portuguese HH patients, according to the combination of the two inherited conserved haplotypes*
|
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 (× 106/ml) | 0.35 ± 0.17 | 0.55 ± 0.14 | 0.0092 |
| Total CD4+ cells (× 106/ml) | 0.96 ± 0.37 | 1.24 ± 0.40 | n.s. |
| Total lymphocytes (× 106/ml) | 1.98 ± 0.57 | 2.65 ± 0.42 | 0.0081 |
* 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.
** 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.