Patient ID Severity FVIII:C FVIII product F8 gene mutation Inhibitor HA1 Severe <1% Plasmatic Intron 22 inversion Negative HA2 Severe <1% Plasmatic Intron 22 inversion Positive (>5BU) HA3 Severe <1% Plasmatic Intron 22 inversion Negative HA4 Severe <1% Plasmatic Intron 22 inversion Positive (<5BU) HA5 Severe <1% Plasmatic Intron 22 inversion Negative HA6 Severe <1% Plasmatic Intron 22 inversion Negative HA7 Severe <1% Plasmatic Intron 22 inversion Negative HA8 Severe <1% Plasmatic Intron 22 inversion Positive (<5BU) HA9 Severe <1% Plasmatic Intron 22 inversion Positive (<5BU) HA10 Severe <1% Plasmatic c.2189G>A Negative HA11 Severe <1% Plasmatic c.5219G>A+1 Negative HA12 Severe <1% Plasmatic c.322A>T Positive (<5BU) HA13 Severe <1% Plasmatic c.200A>C Negative HA14 Severe <1% Plasmatic Intron 22 inversion Negative HA15 Severe <1% Plasmatic Intron 22 inversion Negative HA16 Severe <1% Plasmatic Intron 22 inversion Negative HA17 Severe <1% Plasmatic c.3780G>C* Positive (<5BU) HA18 Severe <1% Plasmatic Unknown mutation Negative HA19 Severe <1% Plasmatic Intron 22 inversion Negative HA20 Severe <1% Plasmatic c.5953C>T Negative HA21 HA22 Severe Severe <1% <1% Plasmatic Plasmatic Intron 1 inversion Unknown mutation Negative Negative HA23 HA24 Moderate Moderate 2% 3% Plasmatic Plasmatic c.6545G>A Unknown mutation Negative Positive (<5BU) *Polymorphism; the c.3780G>C is a polymorphism not a disease-causing mutation BU: Bethesda Unit

Table 1: Clinical and genetic characteristic of patients studied.