Phenotypic characteristics and genetic data of the IP and her parents
| . | VWD diagnosis . | Mutation . | Age, y . | Blood group . | Closure time PFA-collagen/ADP, s . | VWF:Ag, IU/dL . | VWF:GPIb, IU/dL . | FVIII:C, IU/dL . | Multimer . |
|---|---|---|---|---|---|---|---|---|---|
| IP | Type 1 VWD | c.7464C>T | 11 | A1 | >300 | 9 | 6 | 35 | Normal multimer size distribution* |
| Mother | Has risk factor for bleeding | c.7464C>T | 45 | A1 | 149 | 49 | 46 | 92 | Normal |
| Father | Has risk factor for bleeding | No mutation | 46 | A1 | 126 | 44 | 35 | 108 | Normal |
| Normal range | — | — | — | — | 71-118 | 65-165 | 64-150 | 70-157 | — |
| . | VWD diagnosis . | Mutation . | Age, y . | Blood group . | Closure time PFA-collagen/ADP, s . | VWF:Ag, IU/dL . | VWF:GPIb, IU/dL . | FVIII:C, IU/dL . | Multimer . |
|---|---|---|---|---|---|---|---|---|---|
| IP | Type 1 VWD | c.7464C>T | 11 | A1 | >300 | 9 | 6 | 35 | Normal multimer size distribution* |
| Mother | Has risk factor for bleeding | c.7464C>T | 45 | A1 | 149 | 49 | 46 | 92 | Normal |
| Father | Has risk factor for bleeding | No mutation | 46 | A1 | 126 | 44 | 35 | 108 | Normal |
| Normal range | — | — | — | — | 71-118 | 65-165 | 64-150 | 70-157 | — |
ADP, adenosine 5′-diphosphate; FVIII:C, factor VIII coagulant activity; PFA, platelet function assay; VWF:Ag, VWF antigen; VFW:GPIb, VWF binding to platelet glycoprotein Ib; —, not applicable.
The size distribution of the multimer pattern was normal but the concentration of the all multimers was reduced.