Patient characteristics
| . | Inhibitor-negative (n = 83) . | Inhibitor-positive (n = 39) . |
|---|---|---|
| Age at first treatment, mean (SD), mo | 20.7 (17.6) | 17.6 (13.0) |
| Family history of inhibitor development | ||
| No | 67 (80.7%) | 31 (79.5%) |
| Yes | 12 (14.5%) | 4 (10.3%) |
| Unknown | 4 (4.8%) | 4 (10.3%) |
| F8 gene mutation (null vs non-null) | ||
| Non-null mutation | 15 (18.1%) | 1 (2.6%) |
| Null mutation | 67 (80.7%) | 35 (89.7%) |
| Unknown | 1 (1.2%) | 3 (7.7%) |
| F8 gene mutation (detailed) | ||
| Frameshift mutation | 10 (12.0%) | 7 (17.9%) |
| Intron 1 inversion | 4 (4.8%) | 0 (0%) |
| Intron 22 inversion | 32 (38.6%) | 20 (51.3%) |
| Large deletion | 5 (6.0%) | 2 (5.1%) |
| Nonsense mutation | 16 (19.3%) | 6 (15.4%) |
| Missense mutation | 8 (9.6%) | 0 (0%) |
| Splice site mutation | 4 (4.8%) | 1 (2.6%) |
| Non-null mutation, type unknown | 3 (3.6%) | 0 (0%) |
| Unknown | 1 (1.2%) | 3 (7.7%) |
| FVIII product (type) | ||
| Recombinant FVIII product | 39 (47.0%) | 22 (56.4%) |
| Plasma-derived FVIII product | 44 (53.0%) | 17 (43.6%) |
| . | Inhibitor-negative (n = 83) . | Inhibitor-positive (n = 39) . |
|---|---|---|
| Age at first treatment, mean (SD), mo | 20.7 (17.6) | 17.6 (13.0) |
| Family history of inhibitor development | ||
| No | 67 (80.7%) | 31 (79.5%) |
| Yes | 12 (14.5%) | 4 (10.3%) |
| Unknown | 4 (4.8%) | 4 (10.3%) |
| F8 gene mutation (null vs non-null) | ||
| Non-null mutation | 15 (18.1%) | 1 (2.6%) |
| Null mutation | 67 (80.7%) | 35 (89.7%) |
| Unknown | 1 (1.2%) | 3 (7.7%) |
| F8 gene mutation (detailed) | ||
| Frameshift mutation | 10 (12.0%) | 7 (17.9%) |
| Intron 1 inversion | 4 (4.8%) | 0 (0%) |
| Intron 22 inversion | 32 (38.6%) | 20 (51.3%) |
| Large deletion | 5 (6.0%) | 2 (5.1%) |
| Nonsense mutation | 16 (19.3%) | 6 (15.4%) |
| Missense mutation | 8 (9.6%) | 0 (0%) |
| Splice site mutation | 4 (4.8%) | 1 (2.6%) |
| Non-null mutation, type unknown | 3 (3.6%) | 0 (0%) |
| Unknown | 1 (1.2%) | 3 (7.7%) |
| FVIII product (type) | ||
| Recombinant FVIII product | 39 (47.0%) | 22 (56.4%) |
| Plasma-derived FVIII product | 44 (53.0%) | 17 (43.6%) |
SD, standard deviation.