Phenotypic parameters for Tyr/Tyr1584 and Tyr/Cys1584 individuals
ID . | Position 1584 . | Blood group . | VWF:Ag, % . | VWF:RCo, % . | RCo/Ag ratio . | VWF:CB, % . | CBA/Ag ratio . | FVIII:C, % . |
---|---|---|---|---|---|---|---|---|
C1 | Tyr/Tyr | A | 99 | 145 | 1.47 | 79 | 0.80 | 88 |
C2 | Tyr/Tyr | O | 72 | 123 | 1.71 | 57 | 0.79 | 86 |
C3 | Tyr/Tyr | A | 94 | 133 | 1.41 | 76 | 0.81 | 97 |
2:3 | Tyr/Cys | O | 86 | 53 | 0.62 | 80 | 0.93 | 76 |
C154 | Tyr/Cys | O | 34 | — | — | 18 | 0.53 | 40 |
C188 | Tyr/Cys | A | 309* | 464 | 1.50 | 262 | 0.84 | 192 |
M* | Tyr/Cys | O | 13 | < 10 | > 0.76 | — | — | 37 |
16 | 18 | 1.13 | 12 | 0.75 | 48 | |||
13 | < 10 | > 0.77 | — | — | 27 | |||
21 | 13 | 0.61 | 9 | 0.42 | 48 |
ID . | Position 1584 . | Blood group . | VWF:Ag, % . | VWF:RCo, % . | RCo/Ag ratio . | VWF:CB, % . | CBA/Ag ratio . | FVIII:C, % . |
---|---|---|---|---|---|---|---|---|
C1 | Tyr/Tyr | A | 99 | 145 | 1.47 | 79 | 0.80 | 88 |
C2 | Tyr/Tyr | O | 72 | 123 | 1.71 | 57 | 0.79 | 86 |
C3 | Tyr/Tyr | A | 94 | 133 | 1.41 | 76 | 0.81 | 97 |
2:3 | Tyr/Cys | O | 86 | 53 | 0.62 | 80 | 0.93 | 76 |
C154 | Tyr/Cys | O | 34 | — | — | 18 | 0.53 | 40 |
C188 | Tyr/Cys | A | 309* | 464 | 1.50 | 262 | 0.84 | 192 |
M* | Tyr/Cys | O | 13 | < 10 | > 0.76 | — | — | 37 |
16 | 18 | 1.13 | 12 | 0.75 | 48 | |||
13 | < 10 | > 0.77 | — | — | 27 | |||
21 | 13 | 0.61 | 9 | 0.42 | 48 |
C1-3 indicate individuals from a cohort of 200 random subjects; M indicates patient M; 2:3 indicates the sister of patient M; C154 and C188 indicate the 2 Tyr/Cys 1584 heterozygous individuals from the cohort of 200 random subjects;—indicates not determined.
Data are shown for testing on 4 independent occasions.