Patient characteristics stratified in 4 subgroups with distinct signatures of FVIII-binding antibodies developed during the HIPS study
Patient no. . | F8 mutation . | Age at first FVIII infusion, mo . | Peak FVIII inhibitor titer, BU/mL . | First FVIII inhibitor detection . | Ethnic background . | Family history of hemophilia A . | Family history of FVIII inhibitors . |
---|---|---|---|---|---|---|---|
Subgroup 1: no FVIII-binding IgG antibodies | |||||||
1 | Missense | 9.1 | <0.4 | NA | White | No | No |
2 | Intron 22 inversion | 12.7 | <0.4 | NA | White | Yes | Yes |
3 | Missense | 2.8 | <0.4 | NA | White | Yes | No |
4 | Missense | 2.5 | <0.4 | NA | Black | Yes | No |
5 | Duplication | 7.8 | <0.4 | NA | White | No | No |
6 | Frameshift | 16.6 | <0.4 | NA | White | Yes | Yes |
7 | Nonsense | 6.7 | <0.4 | NA | White | Yes | Unknown |
Subgroup 2: non-neutralizing FVIII-binding antibodies | |||||||
8 | Intron 22 inversion | 9.3 | <0.4 | NA | White | No | No |
9 | Missense | 19.9 | <0.4 | NA | Black | Yes | Yes |
10 | Intron 22 inversion | 3.6 | <0.4 | NA | White | No | No |
11 | Missense | 13.5 | <0.4 | NA | White | No | No |
12 | Intron 1 inversion | 12.0 | <0.4 | NA | White | No | No |
13 | Missense | 10.7 | <0.4 | NA | White | No | No |
14 | Intron 22 inversion | 0.4 | <0.4 | NA | White | Yes | Yes |
Subgroup 3: transient FVIII inhibitors | |||||||
15 | Frameshift | 14.7 | 1.8 | ED20 | Black | Yes | Yes |
16 | Intron 22 inversion | 9.7 | 1.4 | ED12 | White | Yes | No |
Subgroup 4: persistent FVIII inhibitors | |||||||
17 | Large deletion | 10.2 | 4.5 | ED20 | Hispanic | No | No |
18 | Large deletion | 12.0 | 7 | ED6 | Hispanic | Yes | Unknown |
19 | Intron 22 inversion | 12.6 | 796 | ED10 | White | Yes | Unknown |
20 | Duplication | 12.0 | 9.5 | ED10 | Hispanic | Yes | Yes |
21 | Intron 22 inversion | 10.3 | 323 | ED10 | White | Yes | Unknown |
22 | Intron 22 inversion | 6.3 | 3049 | ED10 | Asian or Pacific | Yes | No |
23 | Intron 22 inversion | 9.2 | 124 | ED11 | White | Yes | Yes |
Patient no. . | F8 mutation . | Age at first FVIII infusion, mo . | Peak FVIII inhibitor titer, BU/mL . | First FVIII inhibitor detection . | Ethnic background . | Family history of hemophilia A . | Family history of FVIII inhibitors . |
---|---|---|---|---|---|---|---|
Subgroup 1: no FVIII-binding IgG antibodies | |||||||
1 | Missense | 9.1 | <0.4 | NA | White | No | No |
2 | Intron 22 inversion | 12.7 | <0.4 | NA | White | Yes | Yes |
3 | Missense | 2.8 | <0.4 | NA | White | Yes | No |
4 | Missense | 2.5 | <0.4 | NA | Black | Yes | No |
5 | Duplication | 7.8 | <0.4 | NA | White | No | No |
6 | Frameshift | 16.6 | <0.4 | NA | White | Yes | Yes |
7 | Nonsense | 6.7 | <0.4 | NA | White | Yes | Unknown |
Subgroup 2: non-neutralizing FVIII-binding antibodies | |||||||
8 | Intron 22 inversion | 9.3 | <0.4 | NA | White | No | No |
9 | Missense | 19.9 | <0.4 | NA | Black | Yes | Yes |
10 | Intron 22 inversion | 3.6 | <0.4 | NA | White | No | No |
11 | Missense | 13.5 | <0.4 | NA | White | No | No |
12 | Intron 1 inversion | 12.0 | <0.4 | NA | White | No | No |
13 | Missense | 10.7 | <0.4 | NA | White | No | No |
14 | Intron 22 inversion | 0.4 | <0.4 | NA | White | Yes | Yes |
Subgroup 3: transient FVIII inhibitors | |||||||
15 | Frameshift | 14.7 | 1.8 | ED20 | Black | Yes | Yes |
16 | Intron 22 inversion | 9.7 | 1.4 | ED12 | White | Yes | No |
Subgroup 4: persistent FVIII inhibitors | |||||||
17 | Large deletion | 10.2 | 4.5 | ED20 | Hispanic | No | No |
18 | Large deletion | 12.0 | 7 | ED6 | Hispanic | Yes | Unknown |
19 | Intron 22 inversion | 12.6 | 796 | ED10 | White | Yes | Unknown |
20 | Duplication | 12.0 | 9.5 | ED10 | Hispanic | Yes | Yes |
21 | Intron 22 inversion | 10.3 | 323 | ED10 | White | Yes | Unknown |
22 | Intron 22 inversion | 6.3 | 3049 | ED10 | Asian or Pacific | Yes | No |
23 | Intron 22 inversion | 9.2 | 124 | ED11 | White | Yes | Yes |
NA, not applicable.