Table 3.
Clinical and immunological characterization and inferred haplotypes present in a sample of 10 Canadian HH patients
| Age | TfSat | Ferritin | TBIS | Associated | CD4+ | CD8+ | Haplotype 1 | Haplotype 2 | ||||||||||
| ID | Gender | (years) | (%) | (ng/ml) | (g) | diseases | (×106/ml) | ZSCAN12 | PGBD1 | ZNF193 | ZNF165 | ZNF184 | ZSCAN12 | PGBD1 | ZNF193 | ZNF165 | ZNF184 | |
| 1 | M | 52 | 96 | 2210 | 5.0 | 0.95 | 0.26 | A | A | A | T | G | A | A | A | T | G | |
| 2 | M | 54 | 97 | 1618 | 12.0 | 0.97 | 0.17 | A | A | A | T | G | A | A | A | T | G | |
| 3 | F | 65 | 95 | 1002 | 7.5 | 0.30 | 0.14 | A | A | A | T | G | A | A | A | T | G | |
| 4 | F | 63 | n.a. | 2550 | 28.5 | 0.66 | 0.21 | A | A | A | T | G | G | A | A | T | T | |
| 5 | M | 43 | n.a. | n.a. | 25.0 | Hepatitis C infection | 0.80 | 0.43 | A | A | A | T | G | A | A | A | T | G |
| 6 | F | 61 | 60 | 500 | 2.0 | Celiac disease | 0.93 | 0.53 | A | A | A | T | G | G | A | A | T | T |
| 7 | F | 35 | 95 | 82 | 0.5 | Hashimoto's thyroiditis | 0.79 | 0.50 | A | A | A | T | G | A | A | A | T | G |
| 8 | M | 51 | 83 | 646 | 2.6 | 0.55 | 0.43 | A | A | A | G | T | A | A | A | T | T | |
| 9 | F | 80 | 79 | 463 | 1.7 | Small cell B lymphoma | 0.64 | 0.40 | G | G | G | G | G | G | A | A | T | T |
| 10 | M | 39 | 45 | 695 | 2.1 | 1.01 | 0.58 | G | G | G | G | G | G | G | G | G | T | |
M: male; F: female. Tfsat: transferrin saturation. n.a.: not available.
Alleles in bold represent conserved haplotype regions. Text in grey highlight subjects with associated diseases.