Table 1.
The Nijmegen hemostasis assay parameters in patients with a plasminogen deficiency
| Genotype | Age (y) | Sex | Plasminogen activity level |
Plasminogen antigen level (mg/L) |
Clinical phenotype | Lag time (min) | Thrombin peak time (min) | Thrombin peak height (nmol/L) | ETP (nM) | Fibrin lysis time (min) | Plasmin peak height (nmol/L) | Plasmin potential (nmol/L) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference median a | 5,0 | 9,5 | 334,5 | 2073 | 30,3 | 10 | 89 | ||||||
| Reference 25 perc | 4.38 | 8,5 | 299 | 1878 | 21,8 | 5 | 36 | ||||||
| Reference 75 perc | 6,13 | 11,0 | 399 | 2214 | 41 | 17 | 202 | ||||||
| 1 | c.112A > G p.Lys38Glu; c.1468C > T p.Arg490X | 37 | M | 19% | 25 | Ligneous conjunctivitis oral lesions | 2.0 | 6.0 | 428 | 3367 |
ND |
ND | ND |
| 2 | Unknown | 10 | M | 16% | 64 | Ligneous conjunctivitis | 3.5 | 9.8 | 156 | 2002 | ND | ND | ND |
| 3 | c.112A > G p.Lys38Glu; c.704G > A p.Arg235His | 6 | F | 5% | 64 | Ligneous conjunctivitis | 2.0 | 5.0 | 302 | 2530 | ND | ND | ND |
| 4 | Homozygous c.112A > G p.Lys38Glu | 7 | F | 23% | 34 | Ligneous conjunctivitis | 2.0 | 4.8 | 303 | 3218 | ND | 5.0 | ND |
| 5 | Homozygous c.23T > Cp.Leu8Pro | 49 | F | 7% | 12 | Ligneous conjunctivitis oral lesions | 2.5 | 6.0 | 360 | 2879 | ND | ND | ND |
| Median | – | – | – | – | 2.0 | 6.0 | 303 | 2879 | ND | ND | ND | ||
| 25 perc | – | – | – | – | 2.0 | 4.9 | 229 | 2266 | ND | ND | ND | ||
| 75 perc | – | – | – | – | 3.0 | 7.9 | 394 | 3292 | ND | ND | ND |
Abbreviation: ND = not to be determined.
a
N = 53.