Summary of rare and low VWF D′D3 variants and associated FVIII PK
| Genetic variant . | Reference allele . | c.[2477G>A]+[=] . | c.[2555G>A]+[=] . |
|---|---|---|---|
| Protein variant | N/A | p.(R826K) | p.(R852Q) |
| Sample size | n = 38 | n = 1 | n = 4 |
| FVIII PK | |||
| Cl, mL/h | 149 (47-322) | 400 | 132 (63-260) |
| k, h−1 | 0.0668 (0.0377-0.098) | 0.13 | 0.069 (0.04-0.084) |
| Half-life, h | 10.38 (7.09-18.43) | 5.3 | 10.06 (8.23-17.05) |
| AUC (h·mIU/dL) | 137.36 (73.34-267.79) | 62.39 | 137.33 (93.65-202.65) |
| VWF | |||
| VWF:Ag, % | 87.49 (39.93-141.64) | 45.7 | 78.82 (44.99-109.37) |
| VWFpp/VWF:Ag | 1.1 (0.329-1.71) | 1.38 | 0.99 (74.13-145.32) |
| VWF:FVIIIB, % | 83.0 (27.0-291.5) | 11.3 | 66.62 (43.0-90.3) |
| Genetic variant . | Reference allele . | c.[2477G>A]+[=] . | c.[2555G>A]+[=] . |
|---|---|---|---|
| Protein variant | N/A | p.(R826K) | p.(R852Q) |
| Sample size | n = 38 | n = 1 | n = 4 |
| FVIII PK | |||
| Cl, mL/h | 149 (47-322) | 400 | 132 (63-260) |
| k, h−1 | 0.0668 (0.0377-0.098) | 0.13 | 0.069 (0.04-0.084) |
| Half-life, h | 10.38 (7.09-18.43) | 5.3 | 10.06 (8.23-17.05) |
| AUC (h·mIU/dL) | 137.36 (73.34-267.79) | 62.39 | 137.33 (93.65-202.65) |
| VWF | |||
| VWF:Ag, % | 87.49 (39.93-141.64) | 45.7 | 78.82 (44.99-109.37) |
| VWFpp/VWF:Ag | 1.1 (0.329-1.71) | 1.38 | 0.99 (74.13-145.32) |
| VWF:FVIIIB, % | 83.0 (27.0-291.5) | 11.3 | 66.62 (43.0-90.3) |
Data are median (range).
N/A, not applicable.