FVIII mutations and inhibitor prevalence in all severities of hemophilia A69,70
| Mutation . | Relative incidence, % . | Inhibitor prevalence, % . |
|---|---|---|
| Large deletions | 3.0 | 41 |
| Multidomain | 88 | |
| Single domain | 25 | |
| Nonsense mutations | 9.3 | 31 |
| Light chain | 40 | |
| Heavy chain | 17 | |
| Intron-22 inversion | 35.7 | 21 |
| Small deletions | 10.2 | 16 |
| Missense | 38.2 | 5 |
| C1/C2 domain | 10 | |
| Non-C1/C2 domain | 3 | |
| Splice site | 2.4 | 17 |
| Mutation . | Relative incidence, % . | Inhibitor prevalence, % . |
|---|---|---|
| Large deletions | 3.0 | 41 |
| Multidomain | 88 | |
| Single domain | 25 | |
| Nonsense mutations | 9.3 | 31 |
| Light chain | 40 | |
| Heavy chain | 17 | |
| Intron-22 inversion | 35.7 | 21 |
| Small deletions | 10.2 | 16 |
| Missense | 38.2 | 5 |
| C1/C2 domain | 10 | |
| Non-C1/C2 domain | 3 | |
| Splice site | 2.4 | 17 |
Relative incidence is given for each mutation type and subtype, along with the prevalence of inhibitor development in patients with that mutation type or subtype.