Laboratory and clinical phenotypic data for family members heterozygous and homozygous for p.(Cys1084Tyr)
| . | II-1 . | II-2 . | III-1 . | III-2 (IC) . | III-3 . | Normal range . |
|---|---|---|---|---|---|---|
| Sex | M | F | F | F | F | − |
| Age | 35 | 41 | 10 | 9 | 3 | − |
| Genotype | c.[3251G>A];[=] | c.[3251G>A];[=] | c.[3251G>A];[3251G>A] | c.[3251G>A];[3251G>A] | c.[3251G>A];[=] | − |
| BAT score | 0 | 8 | 4 | 4 | 0 | 0-4 (adult), 0-2 (pediatric) |
| VWF:Ag (IU/mL) | 0.94 | 0.63 | 0.38 | 0.23 | 0.64 | 0.50-1.50 (IU/mL) |
| VWF:GPIbM (IU/mL) | 0.41 | 0.32 | 0.15 | 0.11 | 0.29 | 0.50-1.50 (IU/mL) |
| VWF:CB (IU/mL) | 0.34 | 0.26 | 0.13 | 0.09 | 0.3 | 0.50-1.50 (IU/mL) |
| VWFpp (IU/mL) | 1.13 | 0.84 | 0.76 | 0.56 | 0.91 | 0.50-1.50 (IU/mL) |
| FVIII:C (IU/mL) | 0.65 | 0.83 | 0.10 | 0.05 | 0.72 | 0.50-1.50 (IU/mL) |
| VWF:GPIbM/VWF:Ag | 0.45 | 0.50 | 0.40 | 0.48 | 0.45 | 0.75-1.25 |
| VWF:CBA/VWF:Ag | 0.38 | 0.41 | 0.34 | 0.40 | 0.47 | 0.75-1.25 |
| VWFpp/VWF:Ag | 1.26 | 1.33 | 2.01 | 2.47 | 1.42 | −2.2 |
| FVIII:C/VWF:Ag | 0.72 | 1.31 | 0.25 | 0.22 | 1.12 | 0.75-1.25 |
| Blood Group | A | O | O | O | O | − |
| . | II-1 . | II-2 . | III-1 . | III-2 (IC) . | III-3 . | Normal range . |
|---|---|---|---|---|---|---|
| Sex | M | F | F | F | F | − |
| Age | 35 | 41 | 10 | 9 | 3 | − |
| Genotype | c.[3251G>A];[=] | c.[3251G>A];[=] | c.[3251G>A];[3251G>A] | c.[3251G>A];[3251G>A] | c.[3251G>A];[=] | − |
| BAT score | 0 | 8 | 4 | 4 | 0 | 0-4 (adult), 0-2 (pediatric) |
| VWF:Ag (IU/mL) | 0.94 | 0.63 | 0.38 | 0.23 | 0.64 | 0.50-1.50 (IU/mL) |
| VWF:GPIbM (IU/mL) | 0.41 | 0.32 | 0.15 | 0.11 | 0.29 | 0.50-1.50 (IU/mL) |
| VWF:CB (IU/mL) | 0.34 | 0.26 | 0.13 | 0.09 | 0.3 | 0.50-1.50 (IU/mL) |
| VWFpp (IU/mL) | 1.13 | 0.84 | 0.76 | 0.56 | 0.91 | 0.50-1.50 (IU/mL) |
| FVIII:C (IU/mL) | 0.65 | 0.83 | 0.10 | 0.05 | 0.72 | 0.50-1.50 (IU/mL) |
| VWF:GPIbM/VWF:Ag | 0.45 | 0.50 | 0.40 | 0.48 | 0.45 | 0.75-1.25 |
| VWF:CBA/VWF:Ag | 0.38 | 0.41 | 0.34 | 0.40 | 0.47 | 0.75-1.25 |
| VWFpp/VWF:Ag | 1.26 | 1.33 | 2.01 | 2.47 | 1.42 | −2.2 |
| FVIII:C/VWF:Ag | 0.72 | 1.31 | 0.25 | 0.22 | 1.12 | 0.75-1.25 |
| Blood Group | A | O | O | O | O | − |