FVIII mutations associated with MHA and risk of inhibitors, and for which a biologic response to desmopressin has been reported
| Amino acid substitution (previous nomenclature) . | Domain . | Cases/tested reported with FVIII level ≥30 U/dL after desmopressin, n (%) . | Cases/tested reported with FVIII level ≥50 U/dL after desmopressin, n (%) . |
|---|---|---|---|
| IVS10-18 G>A* | A2 | 0/3 (0%) | 0/3 (0%) |
| p.Arg550Cys (Arg531Cys) | A2 | 5/5 (100%) | 2/5 (40%) |
| p.Arg612Cys (Arg593Cys) | A2 | 26/27 (96%) | 15/27 (56%) |
| p.Asn637Ser (Asn618Ser) | A2 | 10/10 (100%) | 10/10 (100%) |
| p.Pro1873Leu (Pro1854Leu) | A3 | 3/3 (100%) | 2/3 (66%) |
| p.Tyr2124Cys (Tyr2105Cys)† | C1 | 4/4 (100%) | 4/4 (100%) |
| p.Arg2169His (Arg2150His)‡ | C1 | 11/11 (100%) | 7/11 (64%) |
| p.Arg2178Cys (Arg2159Cys) | C1 | 9/9 (100%) | 9/9 (100%) |
| Amino acid substitution (previous nomenclature) . | Domain . | Cases/tested reported with FVIII level ≥30 U/dL after desmopressin, n (%) . | Cases/tested reported with FVIII level ≥50 U/dL after desmopressin, n (%) . |
|---|---|---|---|
| IVS10-18 G>A* | A2 | 0/3 (0%) | 0/3 (0%) |
| p.Arg550Cys (Arg531Cys) | A2 | 5/5 (100%) | 2/5 (40%) |
| p.Arg612Cys (Arg593Cys) | A2 | 26/27 (96%) | 15/27 (56%) |
| p.Asn637Ser (Asn618Ser) | A2 | 10/10 (100%) | 10/10 (100%) |
| p.Pro1873Leu (Pro1854Leu) | A3 | 3/3 (100%) | 2/3 (66%) |
| p.Tyr2124Cys (Tyr2105Cys)† | C1 | 4/4 (100%) | 4/4 (100%) |
| p.Arg2169His (Arg2150His)‡ | C1 | 11/11 (100%) | 7/11 (64%) |
| p.Arg2178Cys (Arg2159Cys) | C1 | 9/9 (100%) | 9/9 (100%) |