Phenotypic data for the cohort
| . | FVIII:C . | VWF:RCo . | VWF:Ag . | VWF:CB . | VWF:RCo/VWF:Ag . | Bleeding score . |
|---|---|---|---|---|---|---|
| IC | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 58 (31-80) | 35 (13-53) | 38 (21-51) | 39 (20-60) | 0.92 (0.64-1.12) | 9.0 (4.5-13.0) |
| No. of individuals | 150 | 149 | 150 | 149 | 149 | 150 |
| AFM | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 65 (34-89) | 36 (13-55) | 37 (22-56) | 52 (24-80) | 0.93 (0.61-1.14) | 5.0 (2.0-8.0) |
| No. of individuals | 273 | 270 | 271 | 87 | 270 | 274 |
| UFM | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 103 (78-135) | 88 (65-113) | 93 (71-119) | 100 (78-121) | 0.95 (0.80-1.16) | 0.0 (−1.0-1.0) |
| No. of individuals | 300 | 295 | 295 | 111 | 295 | 303 |
| HC | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 108 (88-133) | 94 (75-117) | 97 (76-121) | 130 (103-150) | 1.00 (0.85-1.17) | −1.0 (−1.0-0.0) |
| 2.5th to 97.5th percentiles | 57-198 | 47-194 | 48-167 | 66-226 | 0.59-1.62 | −3.0-3.0 |
| No. of individuals | 1160 | 1156 | 1156 | 99 | 1156 | 195 |
| . | FVIII:C . | VWF:RCo . | VWF:Ag . | VWF:CB . | VWF:RCo/VWF:Ag . | Bleeding score . |
|---|---|---|---|---|---|---|
| IC | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 58 (31-80) | 35 (13-53) | 38 (21-51) | 39 (20-60) | 0.92 (0.64-1.12) | 9.0 (4.5-13.0) |
| No. of individuals | 150 | 149 | 150 | 149 | 149 | 150 |
| AFM | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 65 (34-89) | 36 (13-55) | 37 (22-56) | 52 (24-80) | 0.93 (0.61-1.14) | 5.0 (2.0-8.0) |
| No. of individuals | 273 | 270 | 271 | 87 | 270 | 274 |
| UFM | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 103 (78-135) | 88 (65-113) | 93 (71-119) | 100 (78-121) | 0.95 (0.80-1.16) | 0.0 (−1.0-1.0) |
| No. of individuals | 300 | 295 | 295 | 111 | 295 | 303 |
| HC | ||||||
| Arithmetic median, IU/dL (25th to 75th percentiles) | 108 (88-133) | 94 (75-117) | 97 (76-121) | 130 (103-150) | 1.00 (0.85-1.17) | −1.0 (−1.0-0.0) |
| 2.5th to 97.5th percentiles | 57-198 | 47-194 | 48-167 | 66-226 | 0.59-1.62 | −3.0-3.0 |
| No. of individuals | 1160 | 1156 | 1156 | 99 | 1156 | 195 |
P values using the Mann-Whitney test are as follows:
FVIII:C IC versus AFM, P = nonsignificant (NS); versus UFM and HC, P < .001. UFM versus HC, P = .027.
VWF:RCo IC versus AFM, P = NS; versus UFM and HC, P < .001. UFM versus HC, P = .001.
VWF:Ag IC versus AFM, P = NS; versus UFM and HC, P < .001. UFM versus HC, P = NS.
VWF:CB IC versus AFM, P = .009; versus UFM and HC, P < .001. UFM versus HC, P < .001.
VWF:RCo/VWF:Ag IC versus AFM, P = NS; versus UFM, P = .015; versus HC, P < .001. UFM versus HC, P = .01.
Bleeding score (BS) IC versus AFM, UFM, and HC, P < .001. UFM versus HC, P < .001.
IC indicates index case; AFM, affected family member; UFM, unaffected family member; HC, healthy control.