Phenotypic data for all patients
| Family:patient . | VWD type . | Age, y . | ABO blood group . | VWF:Ag, IU/dL . | VWF:RCo, IU/dL . | FVIII, IU/dL . | Multimer pattern . | Bleeding symptoms* . | Mutation present . | Zygosity† . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1:1 | 3 | 55 | AB | Not detected | Not detected | Not detected | None detected | E, D, S, O, B, M, J, G | Ex4-5del + Indel | Cpd het |
| 1:2 | 1 | 18 | O | 22 | 13 | 34 | Normal | B, D | Ex4-5del | Het |
| 2:1 | 3 | 48 | A | 4 | Not detected | 19 | None detected | M, E | Ex4-5del | Het |
| 3:1 | 3 | 55 | B | < 1 | Not detected | < 1 | Not done | E, S, J, G | Ex4-5del + frameshift | Cpd het |
| 4:1 | 3 | 46 | A | 3 | Not detected | 13 | Trace | E, O, J | Ex4-5del + missense | Cpd het |
| 5:1 | 3 | 19 | AB | Not detected | Not detected | 1 | None detected | E, O, J, G | Ex4-5del | Hom |
| 6:1 | 3 | 46 | A | Not detected | Not detected | 2 | None detected | E, D, J, I, G | Ex4-5del | Hom |
| 6:2 | 3 | 42 | O | Not detected | Not detected | 2 | None detected | D, J, G, O | Ex4-5del | Hom |
| 7:1 | 1‡ | 81 | B | 81 | 105 | 99 | Normal | None | Ex4-5del | Het |
| 7:2 | 1 | 45 | O | 16 | 11 | 37 | Normal | O, D, S, B, M | Ex4-5del | Het |
| 7:3 | 1 | 18 | A | 41 | 43 | 89 | Normal | None, all surgery with DDAVP cover | Ex4-5del | Het |
| 7:4 | 1 | 15 | O | 25 | 21 | 107 | Normal | None, all surgery with DDAVP cover | Ex4-5del | Het |
| 8:1 | 1 | 32 | O | 20 | 28 | 89 | Normal | E, M, B, Sur | Ex4-5del | Het |
| 8:2 | 1 | 8 | A | < 20 | < 20 | 47 | Reduced HMW | B, E, surgery with DDAVP cover | Ex4-5del | Het |
| 9:1 | 3 | 1 | A | Not detected | Not detected | 2 | Dimers only detected | I, Sur | Ex4-5del + Splice site | Cpd het |
| 9:2 | Possible 1 | 32 | 39 | 37 | 145 | Normal | No clinical history available | Ex4-5del | Het | |
| 10:1 | 1 | 18 | O | 15 | 11 | 90 | Normal | E, B | Ex4-5del | Het |
| Family:patient . | VWD type . | Age, y . | ABO blood group . | VWF:Ag, IU/dL . | VWF:RCo, IU/dL . | FVIII, IU/dL . | Multimer pattern . | Bleeding symptoms* . | Mutation present . | Zygosity† . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1:1 | 3 | 55 | AB | Not detected | Not detected | Not detected | None detected | E, D, S, O, B, M, J, G | Ex4-5del + Indel | Cpd het |
| 1:2 | 1 | 18 | O | 22 | 13 | 34 | Normal | B, D | Ex4-5del | Het |
| 2:1 | 3 | 48 | A | 4 | Not detected | 19 | None detected | M, E | Ex4-5del | Het |
| 3:1 | 3 | 55 | B | < 1 | Not detected | < 1 | Not done | E, S, J, G | Ex4-5del + frameshift | Cpd het |
| 4:1 | 3 | 46 | A | 3 | Not detected | 13 | Trace | E, O, J | Ex4-5del + missense | Cpd het |
| 5:1 | 3 | 19 | AB | Not detected | Not detected | 1 | None detected | E, O, J, G | Ex4-5del | Hom |
| 6:1 | 3 | 46 | A | Not detected | Not detected | 2 | None detected | E, D, J, I, G | Ex4-5del | Hom |
| 6:2 | 3 | 42 | O | Not detected | Not detected | 2 | None detected | D, J, G, O | Ex4-5del | Hom |
| 7:1 | 1‡ | 81 | B | 81 | 105 | 99 | Normal | None | Ex4-5del | Het |
| 7:2 | 1 | 45 | O | 16 | 11 | 37 | Normal | O, D, S, B, M | Ex4-5del | Het |
| 7:3 | 1 | 18 | A | 41 | 43 | 89 | Normal | None, all surgery with DDAVP cover | Ex4-5del | Het |
| 7:4 | 1 | 15 | O | 25 | 21 | 107 | Normal | None, all surgery with DDAVP cover | Ex4-5del | Het |
| 8:1 | 1 | 32 | O | 20 | 28 | 89 | Normal | E, M, B, Sur | Ex4-5del | Het |
| 8:2 | 1 | 8 | A | < 20 | < 20 | 47 | Reduced HMW | B, E, surgery with DDAVP cover | Ex4-5del | Het |
| 9:1 | 3 | 1 | A | Not detected | Not detected | 2 | Dimers only detected | I, Sur | Ex4-5del + Splice site | Cpd het |
| 9:2 | Possible 1 | 32 | 39 | 37 | 145 | Normal | No clinical history available | Ex4-5del | Het | |
| 10:1 | 1 | 18 | O | 15 | 11 | 90 | Normal | E, B | Ex4-5del | Het |
The phenotypic data, bleeding history, and genotypic data are shown for the type 3 and type 1 VWD patient cohorts. All patients for whom data are reported here are white and of British origin. Laboratory reference ranges: VWF:Ag, 50 to 200 IU/dL; VWF:RCo, 50 to 200 IU/dL; and FVIII, 50 to 150 IU/dL.
Bleeding symptoms: E, epistaxis; O, oral bleeding; S, bleeding from cuts; D, dental bleeding; Sur, surgical bleed; B, bruising; M, menorrhagia; P, postpartum bleeding; J, joint bleeding; I, intracerebral bleed; and G, gastrointestinal bleed.
Zygosity: Hom, homozygous; Cpd het, compound heterozygous; and Het, heterozygous.
Individual is unaffected.