Characteristics of the included HA carriers
| . | Total . | Severe HA∗ . | Moderate HA∗ . | Mild HA∗ . | F8 null variant† . | F8 non-null variant‡ . |
|---|---|---|---|---|---|---|
| n (%) | 361 | 158 (43.8) | 58 (16.1) | 145 (40.2) | 143 (39.6) | 218 (60.4) |
| Age, mean (min-max), y | 25 (13-36) | 26 (12-36) | 20 (9-31) | 26 (16-38) | 25 (11-34) | 25 (14-37) |
| Weight, mean (min-max), kg | 67 (47-68) | 67 (40-68) | 63 (31-68) | 67 (50-67) | 67 (40-68) | 67 (48-68) |
| Basal levels, mean (min-max), IU/mL | ||||||
| FVIII:C | 0.34 (0.26-0.39) | 0.32 (0.25-0.39) | 0.35 (0.28-0.37) | 0.34 (0.27-0.40) | 0.32 (0.25-0.39) | 0.35 (0.28-0.40) |
| VWF:Ag§ | 0.76 (0.63-0.94) | 0.78 (0.64-0.98) | 0.73 (0.65-0.90) | 0.75 (0.59-0.90) | 0.77 (0.64-0.99) | 0.75 (0.62-0.91) |
| Ratio of FVIII:C to VWF:Ag,§ mean (min-max) | 0.31 (0.15-0.48) | 0.30 (0.12-0.46) | 0.22 (0.14-0.38) | 0.34 (0.20-0.51) | 0.30 (0.11-0.43) | 0.31 (0.17-0.50) |
| Blood type,‖ n (%) | ||||||
| O | 195 (62.3) | 74 (37.9) | 26 (13.3) | 95 (48.7) | 68 (34.9) | 127 (65.1) |
| Non-O | 118 (37.7) | 62 (52.5) | 17 (14.4) | 39 (33.1) | 53 (44.9) | 65 (55.1) |
| DDAVP dose,¶ mean (min-max), μg/kg | 0.30 (0.30-0.30) | 0.30 (0.30-0.31) | 0.30 (0.30-0.30) | 0.30 (0.30-0.31) | 0.30 (0.30-0.32) | 0.30 (0.30-0.30) |
| . | Total . | Severe HA∗ . | Moderate HA∗ . | Mild HA∗ . | F8 null variant† . | F8 non-null variant‡ . |
|---|---|---|---|---|---|---|
| n (%) | 361 | 158 (43.8) | 58 (16.1) | 145 (40.2) | 143 (39.6) | 218 (60.4) |
| Age, mean (min-max), y | 25 (13-36) | 26 (12-36) | 20 (9-31) | 26 (16-38) | 25 (11-34) | 25 (14-37) |
| Weight, mean (min-max), kg | 67 (47-68) | 67 (40-68) | 63 (31-68) | 67 (50-67) | 67 (40-68) | 67 (48-68) |
| Basal levels, mean (min-max), IU/mL | ||||||
| FVIII:C | 0.34 (0.26-0.39) | 0.32 (0.25-0.39) | 0.35 (0.28-0.37) | 0.34 (0.27-0.40) | 0.32 (0.25-0.39) | 0.35 (0.28-0.40) |
| VWF:Ag§ | 0.76 (0.63-0.94) | 0.78 (0.64-0.98) | 0.73 (0.65-0.90) | 0.75 (0.59-0.90) | 0.77 (0.64-0.99) | 0.75 (0.62-0.91) |
| Ratio of FVIII:C to VWF:Ag,§ mean (min-max) | 0.31 (0.15-0.48) | 0.30 (0.12-0.46) | 0.22 (0.14-0.38) | 0.34 (0.20-0.51) | 0.30 (0.11-0.43) | 0.31 (0.17-0.50) |
| Blood type,‖ n (%) | ||||||
| O | 195 (62.3) | 74 (37.9) | 26 (13.3) | 95 (48.7) | 68 (34.9) | 127 (65.1) |
| Non-O | 118 (37.7) | 62 (52.5) | 17 (14.4) | 39 (33.1) | 53 (44.9) | 65 (55.1) |
| DDAVP dose,¶ mean (min-max), μg/kg | 0.30 (0.30-0.30) | 0.30 (0.30-0.31) | 0.30 (0.30-0.30) | 0.30 (0.30-0.31) | 0.30 (0.30-0.32) | 0.30 (0.30-0.30) |
min-max, minimum to maximum.
Severity of the familial HA in males.
Null variants include large deletions, intron 1 or 22 inversions, small nucleotide insertions/deletions causing a frameshift with a premature stop codon, and nonsense substitutions.
Non-null variants include missense variants, nucleotide substitutions in the promoter or splice sites, and small deletions of 10 to14 nucleotides in intron 13.
VWF levels were available for 334 of 361 carriers (93%).
ABO blood type data were available for 313 of 361 carriers (86%).
DDAVP doses were available for 346 of 361 carriers (96%).