Table 1.
Phenotypic and molecular data of the proband and his parents
| Patient | Mother | Father | Normal values | ||
|---|---|---|---|---|---|
| Desmopressin | |||||
| Pre | Post | ||||
| BS | 14 | 5 | 0 | Males < 3Females < 5 | |
| Blood group | O | B | A | ||
| Plt (×109/L) | 220 | 224 | 248 | 160 | 150‐400 |
| BT (min) | 5.5 | nd | nd | nd | <4.5 |
| FVIII:C (IU/dL) | 24 | 45 | 90 | 115 | 50‐150 |
| VWF:Ag (IU/dL) | 17 | 34 | 45 | 128 | 50‐150 |
| VWF:RCo (IU/dL) | 9 | 9 | 46 | 101 | 50‐150 |
| RCo/Ag | 0.53 | 0.26 | 1.01 | 0.79 | >0.6 |
| VWF:CB1 (IU/dL) | 17.2 | 24 | nd | nd | 60‐130 |
| CB1/Ag | 1.01 | 0.71 | nd | nd | >0.6 |
| VWF:CB6 (IU/dL) | 4.5 | 8 | nd | nd | 60‐130 |
| CB6/Ag | 0.26 | 0.24 | nd | nd | >0.6 |
| VWFpp (IU/dL) | 27 | nd | nd | nd | 50‐150 |
| VWFpp/Ag | 1.6 | nd | nd | nd | 0.92‐2.14 |
| Multimeric profile | Presence of all the multimeric forms | nd | nd | ||
| Molecular data | c.4276C>T→p.Arg1426Cys c.4944delT→p.Pro1648fs*45 | c.4276C>T→p.Arg1426Cys | No mutations | ||
BS, bleeding score; Plt, platelet count; BT, bleeding time; FVIII:C, factor VIII; VWF:Ag, von Willebrand factor antigen; VWF:RCo, ristocetin cofactor activity; RCo/Ag: VWF:RCo/VWF:Ag; VWF:CB1: VWF‐type I collagen binding; CB1/Ag: VWF:CB1/VWF:Ag; CB6: VWF‐type VI collagen binding; CB6/Ag: VWF:CB6/VWF:Ag; ND: not done.