Distribution of genetic mutations
| . | Severe HA with available genotype . | Severe HB with available genotype . | ||
|---|---|---|---|---|
| Nonsurgery patients (n = 1086) . | Surgery patients (n = 120) . | Nonsurgery patients (n = 225) . | Surgery patients (n = 11) . | |
| Null mutations | 820 | 95 | 62 | 6 |
| Intron 22/intron 1 INV | 533 | 65 | / | |
| Large deletions | 13 | 2 | 9 | |
| Nonsense | 101 | 13 | 42 | 6 |
| Small del/ins not in frame | 153 | 15 | 10 | |
| Non-null mutations | 202 | 25 | 162 | 5 |
| Small del/ins in frame | 11 | 2 | 19 | |
| Splicing | 24 | 3 | 14 | 1 |
| Missense | 167 | 20 | 129 | 4 |
| Not identified | 64 | / | ||
| Null mutation (%) | 76 | 79 | 28 | 55 |
| 95% confidence interval (%) | 73-78 | 72-76 | 22-33 | 25-84 |
| . | Severe HA with available genotype . | Severe HB with available genotype . | ||
|---|---|---|---|---|
| Nonsurgery patients (n = 1086) . | Surgery patients (n = 120) . | Nonsurgery patients (n = 225) . | Surgery patients (n = 11) . | |
| Null mutations | 820 | 95 | 62 | 6 |
| Intron 22/intron 1 INV | 533 | 65 | / | |
| Large deletions | 13 | 2 | 9 | |
| Nonsense | 101 | 13 | 42 | 6 |
| Small del/ins not in frame | 153 | 15 | 10 | |
| Non-null mutations | 202 | 25 | 162 | 5 |
| Small del/ins in frame | 11 | 2 | 19 | |
| Splicing | 24 | 3 | 14 | 1 |
| Missense | 167 | 20 | 129 | 4 |
| Not identified | 64 | / | ||
| Null mutation (%) | 76 | 79 | 28 | 55 |
| 95% confidence interval (%) | 73-78 | 72-76 | 22-33 | 25-84 |
All Italian patients with available genotype are reported. The HA surgery patients with known mutation are 120 of the 179 patients from the 3 main hemophilia centers. All the 11 patients with HB are included.