Table 4.
Hemophilia A Genotype and Inhibitor Formation in Cases and Controls
| Characteric | Case | Control | p value |
|---|---|---|---|
| Severity of Hemophilia | N = 65 | N = 119 | |
| Severe (F.VIII < 0.01 U/ml) | 63/65 (96.9%) | 111/119 (93.2%) | p = 0.300 |
| Moderate (F.VIII 0.01–0.05 U/ml) | 2/65 (3.1%) | 6/119 (5.1%) | |
| Mild (F.VIII > 0.05 U/ml) | 0/65 (0%) | 2/119 (1.7%) | |
| Race | |||
| Caucasian | 48/63 (76.2%) | 98/117 (83.8%) | p = 0.015 |
| African-American | 12/63 (19.0%) | 6/117 (5.1%) | |
| Other | 3/63 (4.8%) | 13/117 (11.1%) | |
| Factor VIII Genotype | |||
| Intron 22 Inversion | 34/65 (52.3%) | 49/119 (41.2%) | p = 0.009 |
| Deletion | 12/65 (18.5%) | 17/119 (14.3%) | |
| Nonsense | 10/65 (15.4%) | 8/119 (6.7%) | |
| Insertion | 3/65 (4.6%) | 4/119 (3.4%) | |
| Missense | 2/65 (3.1%) | 31/119 (26.0%) | |
| Intron 1 Inversion | 2/65 (3.1%) | 6/119 (5.0%) | |
| Splicing | 2/65 (3.1%) | 4/119 (3.4%) | |
| Factor VIII Mutation Site | |||
| Microinsertions | |||
| A2 Domain | 0/4 (0%) | 1/17 (5.9%) | p = 0.388 |
| C2 Domain | 0/4 (0%) | 0/17 (0%) | |
| Microdeletion | |||
| A2 Domain | 0/7 (0%) | 0/31 (0%) | |
| C2 Domain | 2/7 (28.6%) | 3/31 (9.7%) | |
| Missense Mutations | |||
| A2 Domain | 2/5 (40.0%) | 21/89 (23.6%) | |
| C2 Domain | 0/5 (0%) | 14/89 (15.7%) | |
| Nonsense Mutations | |||
| A2 Domain | 1/13 (7.7%) | 2/23 (8.7%) | |
| C2 Domain | 3/13 (23.1%) | 5/23 (21.7%) | |
| Deletion Mutations | |||
| A2 Domain | 6/11 (54.5%) | 3/17 (17.6%) | |
| C2 Domain | 1/11 (9.1%) | 6/17 (35.3%) | |
| All Mutations | |||
| A2 Domain | 9/40 (22.5%) | 27/177 (15.2%) | |
| C2 Domain | 6/40 (15.0%) | 28/177 (15.8%) | |