Table 2. Patients with discordance between VWF:RCo/VWF:Ag-VWF:CB/VWF:Ag-multimeric pattern.
| Patient | FVIII:C(IU/dL) | VWF:Ag (IU/dL) | VWF:Rco (IU/dL) |
VWF:CB (IU/dL) | VWF:RCo/ VWF:Ag | VWF:CB/ VWF:Ag | Multimeric analysis | Mutation | Type |
|---|---|---|---|---|---|---|---|---|---|
| C02P026F08 | 44 | 21 | 7.4 | 8.8 | 0.35 | 0.42 | Smear | p.Arg1315Cys* | 2A/2M |
| C02P027F08 | 28 | 11 | 7.1 | 6.4 | 0.64 | 0.58 | Smear | p.Arg1315Cys* | 2A/2M |
| C02P034F12 | 23 | 26 | 8.4 | 14 | 0.32 | 0.54 | Smear | p.Arg1315Cys* | 2A/2M |
| C03P017F76 | 39 | 44 | 11.8 | 23 | 0.27 | 0.52 | Smear | p.Arg1374Cys* | 2A/2M |
| C13P009F07 | 20 | 9.5 | 5 | 5.8 | 0.53 | 0.61 | Smear | p.Arg1315Cys* | 2A/2M |
| C13P016F07 | 21 | 11 | 5 | 6.7 | 0.45 | 0.61 | Smear | p.Arg1315Cys* | 2A/2M |
| C01P038F20 | 20 | 20 | 5.3 | 13 | 0.27 | 0.65 | Smear | p.Arg1315Cys* | 2A/2M |
| C01P002F02 | 34 | 16 | 4.4 | 9.2 | 0.28 | 0.58 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P003F02 | 45 | 20 | 6.7 | 13 | 0.34 | 0.65 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P020F02 | 47 | 32 | 11 | 19 | 0.34 | 0.59 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P022F02 | 59 | 54 | 18 | 30 | 0.33 | 0.55 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P039F02 | 24 | 23 | 12 | 15 | 0.52 | 0.65 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P007F04 | 38 | 25 | 7.8 | 15 | 0.31 | 0.6 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P015F04 | 36 | 19 | 7.8 | 11 | 0.41 | 0.58 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P023F04 | 27 | 30 | 13 | 18 | 0.43 | 0.6 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P033F04 | 32 | 27 | 10 | 16 | 0.37 | 0.59 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P042F16 | 26 | 27 | 4.9 | 17 | 0.18 | 0.63 | Smear | p.Arg1374Cys* | 2A/2M |
| C01P071F16 | 17 | 13 | 6.6 | 6.7 | 0.51 | 0.51 | Smear | p.Arg1374Cys* | 2A/2M |
| C37P003F03 | 44 | 30 | 25 | 20 | 0.83 | 0.66 | Smear | p.Cys2491Arg | 2A/2M |
| C30P012F07 | 18 | 32 | 28 | 19 | 0.88 | 0.59 | Smear | p.Arg763Ser | 2A/2M y 2N |
| C30P013F08 | 53 | 78 | 31.8 | 34 | 0.41 | 0.43 | Smear | p.Arg763Ser | 2A/2M y 2N |
| C02P047F18 | 30 | 9.3 | 6.4 | 6.1 | 0.69 | 0.66 | Smear | p.Pro1824His* | 1 Smeary |
| C02P001F01 | 19 | 9.7 | 2.6 | 6 | 0.27 | 0.62 | Normal | p.Arg1205His* | 1 |
| C13P006F04 | 16 | 10 | 6 | 6.1 | 0.6 | 0.61 | Normal | p.Arg1205His* | 1 |
| C32P004F04 | 6.3 | 9.8 | 4 | 5 | 0.41 | 0.51 | Normal | c.2821-123A>C | 1 |
| C37P005F05 | 44 | 26 | 18 | 18 | 0.69 | 0.69 | Normal | p.Arg960Trp* | 1 |
| C39P019F08 | 30 | 23 | 12 | 16 | 0.52 | 0.69 | Normal | c.3390C>T* | 1 |
| C32P007F07 | 46 | 69 | 35 | 34 | 0.51 | 0.49 | Normal | p.Ile482Met | 1H |
| C30P004F03 | 26 | 16 | 5.4 | 13 | 0.34 | 0.81 | ↓HMWM | p.Leu1307Pro* | 2A |
| C30P007F03 | 24 | 13 | 5.9 | 9.9 | 0.45 | 0.76 | ↓HMWM | p.Leu1307Pro* | 2A |
| C30P010F03 | 21 | 11 | 5.6 | 9.2 | 0.51 | 0.83 | ↓HMWM | p.Leu1307Pro* | 2A |
| C03P007F04 | 30 | 18 | 6.4 | 15 | 0.36 | 0.83 | ↓HMWM | p.Arg1374His* | 2A |
| C03P008F04 | 26 | 14 | 7 | 14 | 0.5 | 1 | ↓HMWM | p.Arg1374His* | 2A |
| C30P005F04 | 26 | 22 | 5.8 | 15 | 0.26 | 0.68 | Normal | p.Arg1374His | 2A |
| C30P015F04 | 29 | 31 | 5 | 14 | 0.16 | 0.45 | Normal | p.Arg1374His | 2A |
| C30P016F04 | 26 | 22 | 5 | 12 | 0.23 | 0.54 | Normal | p.Arg1374His | 2A |
| C30P019F04 | 21 | 26 | 5 | 12 | 0.19 | 0.46 | Normal | p.Arg1374His | 2A |
| C30P020F04 | 45 | 62 | 5.6 | 27 | 0.09 | 0.43 | Normal | p.Arg1374His | 2A |
| C30P021F04 | 33 | 35 | 5.8 | 17 | 0.19 | 0.49 | Normal | p.Arg1374His | 2A |
| C30P022F04 | 25 | 30 | 5.6 | 14 | 0.19 | 0.47 | Normal | p.Arg1374His | 2A |
| C30P024F04 | 19 | 25 | 5.4 | 14 | 0.22 | 0.56 | Normal | p.Arg1374His | 2A |
| C30P025F04 | 25 | 26 | 4 | 11 | 0.15 | 0.42 | Normal | p.Arg1374His | 2A |
| C30P026F04 | 27 | 33 | 4 | 18 | 0.12 | 0.55 | Normal | p.Arg1374His | 2A |
| C30P031F04 | 21 | 22 | 4 | 11 | 0.18 | 0.5 | Normal | p.Arg1374His | 2A |
| C30P032F04 | 41 | 57 | 9 | 29 | 0.16 | 0.51 | Normal | p.Arg1374His | 2A |
| C30P034F04 | 21 | 21 | 5 | 9.8 | 0.24 | 0.47 | Normal | p.Arg1374His | 2A |
| C30P036F04 | 30 | 23 | 5 | 11 | 0.22 | 0.48 | Normal | p.Arg1374His | 2A |
| C39P005F03 | 26 | 13 | 7.1 | 14 | 0.55 | 1.08 | ↓HMWM | p.Arg1374His* | 2A |
| C39P006F03 | 23 | 12 | 4.7 | 14 | 0.39 | 1.17 | ↓HMWM | p.Arg1374His* | 2A |
| C06P021F15 | 31 | 13 | 5.7 | 13 | 0.44 | 1 | ↓HMWM | p.Arg1374His* | 2A |
| C06P022F15 | 30 | 16 | 6.1 | 16 | 0.38 | 1 | ↓HMWM | p.Arg1374His* | 2A |
| C39P001F02 | 35 | 18 | 5 | 17 | 0.28 | 0.94 | ↓HMWM | p.Arg1374His* | 2A |
| C39P004F02 | 29 | 13 | 6.7 | 15 | 0.52 | 1.15 | ↓HMWM | p.Arg1374His* | 2A |
| C39P011F06 | 31 | 17 | 7.7 | 21 | 0.45 | 1.23 | ↓HMWM | p.Ser1506Leu* | 2A |
| C39P012F06 | 13 | 8.2 | 5 | 6.9 | 0.61 | 0.84 | ↓HMWM | p.Ser1506Leu* | 2A |
| C42P010F10 | 52 | 69 | 58.5 | 45 | 0.85 | 0.65 | ↓HMWM | p.Arg1597Gln* | 2A |
| C22P005F05 | 47 | 12 | 6.9 | 11 | 0.58 | 0.92 | ↓HMWM | p.Val1414Gly | 2A |
| C07P006F02 | 26 | 17 | 4 | 12 | 0.24 | 0.71 | ↓HMWM | p.Asp1614Asn | 2A |
| C02P078F07 | 55 | 34 | 24 | 21 | 0.71 | 0.62 | ↓HMWM | p.Arg1308Cys* | 2B |
| C27P015F08 | 63 | 33 | 18.5 | 25 | 0.56 | 0.76 | ↓HMWM | p.Arg1306Trp* | 2B |
| C14P001F01 | 15 | 9 | 6 | 7.6 | 0.67 | 0.84 | ↓HMWM | p.Arg1306Trp* | 2B |
| C12P015F08 | 48 | 56 | 45 | 42 | 0.8 | 0.75 | ↓HMWM | p.Arg1306Gln* | 2B |
| C35P009F04 | 24 | 23 | 18 | 16 | 0.78 | 0.69 | ↓HMWM | p.Arg1308Cys* | 2B |
| C01P066F32 | 26 | 16 | 4 | 11 | 0.25 | 0.69 | Normal | p.Gly1415Asp* | 2M |
| C12P020F13 | 67 | 84 | 55 | 53 | 0.65 | 0.63 | Normal | p.Arg1399His* | 2M |
| C27P010F06 | 18 | 6.8 | 4 | 4.3 | 0.59 | 0.63 | Normal | p.Leu1382Pro* | 2M |
| C03P023F32 | 21 | 12 | 4.4 | 7.7 | 0.37 | 0.64 | Normal | p.Val1409Phe | 2M |
| C03P024F32 | 26 | 25 | 7.2 | 12 | 0.29 | 0.48 | Normal | p.Val1409Phe/p.Arg1399His | 2M |
| C03P025F32 | 65 | 109 | 17 | 42 | 0.16 | 0.38 | Normal | p.Val1409Phe | 2M |
| C12P023F16 | 213 | 272 | 186 | 178 | 0.68 | 0.65 | Normal | p.Arg1395Trp | 2M |
| C30P027F10 | 34 | 36 | 16 | 20 | 0.44 | 0.55 | Normal | p.Arg1779Leu | 2M |
| C30P028F10 | 19 | 28 | 13.6 | 16 | 0.49 | 0.57 | Normal | p.Arg1779Leu | 2M |
| C44P003F02 | 11 | 16 | 5 | 11 | 0.31 | 0.69 | Normal | p.Gly1415Asp/Arg854Gln* | 2M |
| C44P008F06 | 23 | 28 | 6.2 | 19 | 0.22 | 0.68 | Normal | p.Val1409Phe | 2M |
| C44P009F06 | 60 | 46 | 10.4 | 32 | 0.23 | 0.69 | Normal | p.Val1409Phe | 2M |
| C44P010F06 | 33 | 33 | 7.4 | 21 | 0.22 | 0.64 | Normal | p.Val1409Phe | 2M |
| C03P022F25 | 85 | 88 | 46 | 48 | 0.52 | 0.55 | Normal | c.7082-2A>G/c.7730-177G>T* | 3 carrier |
| C32P011F10 | 88 | 51 | 23.5 | 21 | 0.46 | 0.41 | Normal | p.Gln1311Ter* | 3 carrier |
| NV | 60–140 | 47–190 | 50–170 | 60–130 | >0.7 | >0.7 | – | – | – |
NV: Normal value; FVIII:C: procoagulant factor VIII; VWF:Ag: VWF antigen; VWF:RCo: VWF ristocetin cofactor activity; VWF:CB: VWF collagen binding; ↓HMWM: decreased proportion of high molecular weight multimers.
Mutations previously described are indicated in bold type.
* Multimeric pattern consistent with the mutation.