Characteristics of patients and families with the TNFA –308A/A genotype
Family no., by type of hemophilia A . | TNF-α-308G>A genotype in sibling 1/2/3/4 . | Type of inhibitor in sibling 1/2/3/4 . | Peak titer in sibling 1/2/3/4, BU/mL . | Factor VIII gene mutation . |
|---|---|---|---|---|
| Severe | ||||
| 1 | AA/AA | High/High | 282/6 | Small deletion (del T5574) |
| 2 | AA/GA | High/High | 38/300 | Intron 22 inversion* |
| 3 | GA/AA | High/High | 15/8 | Intron 22 inversion |
| 4 | AA/GA | High/High | 840/72 | Large deletion (exon 1-6)* |
| 5 | AA/AA/AA | High/High/High | 1100/1560/164 | Intron 22 inversion |
| 6 | AA/GA | High/Low | 31/2 | Intron 22 inversion |
| 7 | AA/GG | High/Low | 153/1 | Intron 22 inversion |
| 8 | GA/AA/GA | Low/High/No | 1/70/- | Small deletion (del T4159)† |
| 9 | GG/AA | No/High | -/150 | Nonsense (Arg427stop) |
| 10 | AA/GG | High/No | 560/- | Intron 1 inversion* |
| 11 | GA/AA | No/High | -/22 | Intron 22 inversion |
| 12 | GA/AA | Low/No | 3/- | Intron 22 inversion |
| Moderate | ||||
| 13 | AA/AA | Low/No | 1/- | Missense (Pro1761Gln)† |
| 14 | AA/GG/GG | No/No/No | — | Missense (Arg2163His)* |
| Mild | ||||
| 15 | GG/AA/GG/AA | No/No/No/High | -/-/-/6 | Missense (Tyr2105Cys)* |
| 16 | AA/AA | No/No | — | Missense (Arg1696Gly) |
Family no., by type of hemophilia A . | TNF-α-308G>A genotype in sibling 1/2/3/4 . | Type of inhibitor in sibling 1/2/3/4 . | Peak titer in sibling 1/2/3/4, BU/mL . | Factor VIII gene mutation . |
|---|---|---|---|---|
| Severe | ||||
| 1 | AA/AA | High/High | 282/6 | Small deletion (del T5574) |
| 2 | AA/GA | High/High | 38/300 | Intron 22 inversion* |
| 3 | GA/AA | High/High | 15/8 | Intron 22 inversion |
| 4 | AA/GA | High/High | 840/72 | Large deletion (exon 1-6)* |
| 5 | AA/AA/AA | High/High/High | 1100/1560/164 | Intron 22 inversion |
| 6 | AA/GA | High/Low | 31/2 | Intron 22 inversion |
| 7 | AA/GG | High/Low | 153/1 | Intron 22 inversion |
| 8 | GA/AA/GA | Low/High/No | 1/70/- | Small deletion (del T4159)† |
| 9 | GG/AA | No/High | -/150 | Nonsense (Arg427stop) |
| 10 | AA/GG | High/No | 560/- | Intron 1 inversion* |
| 11 | GA/AA | No/High | -/22 | Intron 22 inversion |
| 12 | GA/AA | Low/No | 3/- | Intron 22 inversion |
| Moderate | ||||
| 13 | AA/AA | Low/No | 1/- | Missense (Pro1761Gln)† |
| 14 | AA/GG/GG | No/No/No | — | Missense (Arg2163His)* |
| Mild | ||||
| 15 | GG/AA/GG/AA | No/No/No/High | -/-/-/6 | Missense (Tyr2105Cys)* |
| 16 | AA/AA | No/No | — | Missense (Arg1696Gly) |